Set Analyses:
Advanced Search

Advanced Search

Search By
Section (entire)

or upload a file of gene symbols

Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21


protein-coding   GIFtS: 68
GCID: GC22M051063

Arylsulfatase A

Alzheimer's & Parkinson's Diseases Congress
  See related diseases

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Arylsulfatase A1 2     cerebroside-sulfatase2
ASA2 3     Cerebroside-sulfatase3
Metachromatic Leucodystrophy1     EC
MLD2     EC 3.1.68

External Ids:    HGNC: 7131   Entrez Gene: 4102   Ensembl: ENSG000001002997   OMIM: 6075745   UniProtKB: P152893   

Export aliases for ARSA gene to outside databases

Previous GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARSA Gene:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene
lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of
neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for
this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for ARSA Gene: 
ARSA (arylsulfatase A) is a protein-coding gene. Diseases associated with ARSA include metachromatic leukodystrophy, and nervous system cancer, and among its related super-pathways are Sphingolipid metabolism and The activation of arylsulfatases. GO annotations related to this gene include sulfuric ester hydrolase activity and calcium ion binding. An important paralog of this gene is ARSF.

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
Function: Hydrolyzes cerebroside sulfate

Gene Wiki entry for ARSA (Arylsulfatase A) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011526.7  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ARSA gene promoter:
         GR   ER-alpha   AML1a   RelA   Nkx2-5   E4BP4   NF-kappaB   COMP1   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidARSA promoter sequence
   Search SABiosciences Chromatin IP Primers for ARSA

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

ARSA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARSA gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M051063:  view genomic region     (about GC identifiers)

51,061,182 bp from pter      End:
51,066,607 bp from pter
5,426 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289 (See protein sequence)
Recommended Name: Arylsulfatase A precursor  
Size: 507 amino acids; 53588 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component
A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts
with SUMF1
Subcellular location: Lysosome
Miscellaneous: The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant
protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit
Sequence caution: Sequence=AAB03341.1; Type=Erroneous initiation; Sequence=BAH11167.1; Type=Erroneous initiation;
6/9 PDB 3D structures from and Proteopedia for ARSA (see all 9):
1AUK (3D)        1E1Z (3D)        1E2S (3D)        1E33 (3D)        1E3C (3D)        1N2K (3D)    
Secondary accessions: B2RCA6 B7XD04 F8WCC8 Q6ICI5 Q96CJ0
Alternative splicing: 2 isoforms:  P15289-1   P15289-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARSA: NX_P15289

Explore proteomics data for ARSA at MOPED 

Post-translational modifications:

  • UniProtKB: The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in
    prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational
    modification is severely defective in multiple sulfatase deficiency (MSD)
  • View neXtProt modification sites for NX_P15289

  • 2 DME Specific Peptides for ARSA (P15289)

    ARSA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ARSA Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000478.3  NP_001078894.2  NP_001078895.2  NP_001078896.2  NP_001078897.1  

    ENSEMBL proteins: 
     ENSP00000348406   ENSP00000216124   ENSP00000378983   ENSP00000412542   ENSP00000378981  
     ENSP00000448440   ENSP00000448932  
    Reactome Protein details: P15289
    Human Recombinant Protein Products for ARSA: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ARSA (Arylsulfatase A/ARSA)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ARSA
    OriGene Protein Over-expression Lysate for ARSA
    OriGene MassSpec for ARSA 
    OriGene Custom Protein Services for ARSA
    GenScript Custom Purified and Recombinant Proteins Services for ARSA
    Novus Biologicals ARSA Proteins
    Novus Biologicals ARSA Lysates
    Sino Biological Recombinant Protein for ARSA
    Sino Biological Cell Lysate for ARSA 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARSA 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome TAS2562955
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0043202lysosomal lumen TAS--

    ARSA for ontologies           About GeneDecksing

    ARSA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ARSA (Arylsulfatase A/ARSA)
    OriGene Antibodies for ARSA
    OriGene Custom Antibody Services for ARSA
    GenScript Custom Superior Antibodies Services for ARSA
    Novus Biologicals ARSA Antibodies
    Abcam antibodies for ARSA
    Cloud-Clone Corp. Antibodies for ARSA 
    ThermoFisher Antibody for ARSA
    LSBio Antibodies in human, mouse, rat for ARSA 

    Assay Products for ARSA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ARSA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ARSA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARSA 
    Cloud-Clone Corp. CLIAs for ARSA

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARS: Arylsulfatase family

    4 InterPro protein domains:
     IPR000917 Sulfatase
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR024607 Sulfatase_CS
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry P15289

    ProtoNet protein and cluster: P15289

    1 Blocks protein domain: IPB000917 Sulfatase

    UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
    Similarity: Belongs to the sulfatase family

    ARSA for domains           About GeneDecksing

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARSA_HUMAN, P15289
    Function: Hydrolyzes cerebroside sulfate
    Catalytic activity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate
    Enzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine

         Genatlas biochemistry entry for ARSA:
    arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids

         Enzyme Numbers (IUBMB): EC EC 3.1.62

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity TAS2562955
    GO:0004098cerebroside-sulfatase activity TAS--
    GO:0005509calcium ion binding IDA12888274
    GO:0008484sulfuric ester hydrolase activity IDA15962010
    ARSA for ontologies           About GeneDecksing

         2 GenomeRNAi human phenotypes for ARSA:
     Cell cycle / mitosis defect  Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Arsa):
     behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     nervous system 

    ARSA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Arsatm1Gie for ARSA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ARSA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARSA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARSA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARSA 

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARSA
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARSA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSA

    Gene Editing
    DNA2.0 Custom Protein Engineering Service for ARSA
    Sirion Biotech Customized adenovirus for overexpression of ARSA

    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for ARSA (see all 24)
    OriGene ORF clones in mouse, rat for ARSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
    Sino Biological Human cDNA Clone for ARSA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA
    Sirion Biotech Customized lentivirus for stable overexpression of ARSA 
                         Customized lentivirus expression plasmids for stable overexpression of ARSA 

    Cell Line
    GenScript Custom overexpressing Cell Line Services for ARSA
    Search LifeMap BioReagents cell lines for ARSA
    In Situ Assay

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ARSA About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    2PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation0.46
    The activation of arylsulfatases0.46
    Metabolism of lipids and lipoproteins0.34
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/8        Reactome Pathways for ARSA (see all 8)
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    Metabolism of proteins

    2         Kegg Pathways  (Kegg details for ARSA):
        Sphingolipid metabolism

    ARSA for pathways           About GeneDecksing


        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARSA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/26 Interacting proteins for ARSA (P152893 ENSP000002161244) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLEC4GQ6UXB43, ENSP000003275994I2D: score=2 STRING: ENSP00000327599
    CTSLP077113, ENSP000003453444I2D: score=1 STRING: ENSP00000345344
    TRIP13Q156453I2D: score=1 
    ARSBENSP000002649144STRING: ENSP00000264914
    ARSDENSP000003705464STRING: ENSP00000370546
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0007339binding of sperm to zona pellucida IEA--
    GO:0008152metabolic process ----
    GO:0043687post-translational protein modification TAS--

    ARSA for ontologies           About GeneDecksing

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ARSA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ARSA

    10/11 HMDB Compounds for ARSA (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    Galactosylceramide (d18:1/16:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/18:1(9Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/20:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/22:0)Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/24:1(15Z))Galactocerebroside (see all 15)----
    Galactosylceramide (d18:1/26:1(17Z))Galactocerebroside (see all 15)----
    MagnesiumMagnesium (see all 2)7439-95-4--
    SulfateSulfate (ion 2-) (see all 9)14808-79-8--

    4 DrugBank Compounds for ARSA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Micafungin-- 235114-32-6enzymesubstrate15882123 17516879
    N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium-- --target--10592235
    SuraminBayer 205 (see all 6)145-63-1enzymeinhibitor7291729
    2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid-- --target----

    10/42 Novoseek inferred chemical compound relationships for ARSA gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfatide 95.1 72 1359786 (6), 10894127 (3), 15322834 (2), 17204333 (2) (see all 37)
    formylglycine 90.1 3 10212197 (1), 9497327 (1), 9760228 (1)
    p-nitrocatechol sulfate 89.9 14 10464659 (2), 1687673 (2), 16613739 (2), 11870284 (1) (see all 7)
    cerebroside 77.4 9 10082381 (1), 11746679 (1), 1687673 (1), 15275696 (1) (see all 6)
    n-acetylgalactosamine 6-sulfate 72.1 2 1755850 (1), 1875023 (1)
    mannose 6-phosphate 70.3 12 12296771 (3), 1352293 (1), 8106525 (1), 15709909 (1) (see all 7)
    sulf 66.4 5 16311251 (2), 17093507 (2)
    galactosylceramide 65.7 3 9024105 (1), 18097285 (1)
    mucopolysaccharide 40.9 3 9336808 (2), 11315200 (1)
    mannose 35.5 3 1352293 (1), 7890120 (1), 9202426 (1)

    Search CenterWatch for drugs/clinical trials and news about ARSA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ARSA gene (5 alternative transcripts): 
    NM_000487.5  NM_001085425.2  NM_001085426.2  NM_001085427.2  NM_001085428.2  

    Unigene Clusters for ARSA:

    Arylsulfatase A
    Hs.88251  [show with all ESTs], Hs.731715  [show with all ESTs]
    Unigene Representative Sequences: NM_000487, AK310564
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
    ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
    ENST00000547307 ENST00000547805

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ARSA
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ARSA (see all 9):
    hsa-miR-374b* hsa-miR-485-5p hsa-miR-892b hsa-miR-3918 hsa-miR-619 hsa-miR-646 hsa-miR-221* hsa-miR-24
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ARSA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSA
    OriGene clones in human, mouse for ARSA (see all 24)
    OriGene ORF clones in mouse, rat for ARSA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARSA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA
    Sirion Biotech Customized lentivirus for stable overexpression of ARSA 
                         Customized lentivirus expression plasmids for stable overexpression of ARSA 
    OriGene qPCR primer pairs and template standards for ARSA
    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARSA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA

    Additional mRNA sequence: 

    AK301098.1 AK310564.1 

    17 DOTS entries:

    DT.453952  DT.100731419  DT.100877746  DT.100877744  DT.95337986  DT.65287834  DT.100699710  DT.100877740 
    DT.100028446  DT.95337982  DT.100644967  DT.95337987  DT.100877741  DT.120644762  DT.40230542  DT.91745500 

    24/228 AceView cDNA sequences (see all 228):

    BX337658 BC014210 BX365605 BU618020 BQ927461 BI905793 CR599839 CB120047 
    BM763358 CB306644 NM_000487 CR614235 BM818814 CB125745 BM818658 AI366066 
    BI906735 CR590422 CB124424 CA423492 BQ669212 BM547797 R96096 BU632246 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ARSA (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
    SP1:                                                                                                  -                                       
    SP2:                                                                                      -           -                                       
    SP3:                    -     -           -     -     -     -     -     -     -                       -                                       
    SP4:                                                                    -     -     -                 -                                       
    SP5:                          -                                                                                                               

    ECgene alternative splicing isoforms for ARSA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ARSA expression in normal human tissues (normalized intensities)      ARSA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    ARSA Expression
    About this image

    ARSA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   

    See ARSA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ARSA

    SOURCE GeneReport for Unigene clusters: Hs.88251 Hs.731715
        SABiosciences Custom PCR Arrays for ARSA
    OriGene qPCR primer pairs and template standards for ARSA
    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARSA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA
    In Situ
    Assay Products:

    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ARSA gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    Gene Description Human
    (Mus musculus)
    Mammalia Arsa1 , 5 arylsulfatase A1, 5 83.27(n)1
      15 (44.94 cM)5
    118831  NM_009713.41  NP_033843.21 
    (Gallus gallus)
    Aves ARSA1 arylsulfatase A 66.67(n)
      426863  XM_424471.3  XP_424471.3 
    (Anolis carolinensis)
    Reptilia --
    1 ↔ many
    1 ↔ many
    (Danio rerio)
    Actinopterygii arsa1 arylsulfatase A 59.06(n)
      541416  NM_001013543.1  NP_001013561.1 
    (Caenorhabditis elegans)
    Secernentea D1014.13 arylsulfatase 36(a)   V(8160224-8161279)   --

    ENSEMBL Gene Tree for ARSA (if available)
    TreeFam Gene Tree for ARSA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to Build 68)
    About This Section
    Paralogs for ARSA gene
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSA using alignment to 1 protein entry:     ARSA_HUMAN:
    DKFZp686G12235    GALNS    ARSG

    ARSA for paralogs           About GeneDecksing

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/464 SNPs in ARSA are shown (see all 464)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    Chr 22 posSequence#AA
    Leukodystrophy metachromatic (MLD)4--see VAR_0542032 T I mis40--------
    Leukodystrophy metachromatic (MLD)4--see VAR_0072492 S L mis40--------
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006735(-) GCCCCC/TGCTGC 10 P L mis1 ese31Minor allele frequency- T:0.00NA 3842
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006739(-) ATGAGA/CCCCCG 10 T P mis10--------
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006786(-) TACCAC/TTGCAG 10 T I mis10--------
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006789(-) TGATAC/TCACTG 10 T I mis1 ese30--------
    CLeukodystrophy metachromatic (MLD)4 untested135006957(-) TGTGCG/AGACTG 10 /Q /R mis11Minor allele frequency- A:0.00EU 1315
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006958(-) CTGTGC/TGGACT 10 R W mis10--------
    CLeukodystrophy metachromatic (MLD)4 untested135006976(-) AGGTCC/TGTGGG 10 R C mis10--------
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006982(-) CAGACA/GAGGTC 10 K E mis10--------

    HapMap Linkage Disequilibrium report for ARSA (51061182 - 51066607 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ARSA:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv5069n71CNV Loss21882294
    nsv915495CNV Loss21882294
    dgv5068n71CNV Loss21882294
    nsv914543CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    dgv5067n71CNV Loss21882294
    nsv914542CNV Loss21882294
    nsv519694CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): ARSA
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ARSA
    DNA2.0 Custom Variant and Variant Library Synthesis for ARSA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607574   
    OMIM disorders: 250100  
    UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
  • Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect.
    Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse
    loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological
    symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis.
    Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and
    adult. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder
    caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and
    activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy,
    mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and
    developmental delay. Note=The protein represented in this entry is involved in disease pathogenesis.
    Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations
    result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to

  • 20/51 diseases for ARSA (see all 51):    About MalaCards
    metachromatic leukodystrophy    nervous system cancer    central nervous system cancer    sneddon syndrome
    fabry disease    gangliosidosis gm1    sandhoff disease    krabbe disease
    wilson disease    choroideremia    tay-sachs disease    leukodystrophy
    gaucher's disease    gangliosidosis    essential tremor    pervasive developmental disorder
    lysosomal storage disease    dysostosis    tremor    mucolipidosis

    6 diseases from the University of Copenhagen DISEASES database for ARSA:
    Metachromatic leukodystrophy     Mucosulfatidosis     Mucopolysaccharidosis     Krabbe disease
    Mucolipidosis     Cerebral lipidosis

    ARSA for disorders           About GeneDecksing

    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/37 Novoseek inferred disease relationships for ARSA gene (see all 37)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukodystrophy metachromatic 99 308 1687673 (4), 1670590 (3), 12427515 (3), 1357970 (3) (see all 99)
    leukodystrophy metachromatic late infantile 95.6 8 8723680 (1), 14571263 (1), 9272717 (1), 9888390 (1) (see all 6)
    leukodystrophy metachromatic adult 93.3 2 7710377 (2)
    multiple sulfatase deficiency 90.5 6 9336808 (2), 12809637 (1), 15446395 (1), 1687673 (1)
    leukodystrophy metachromatic juvenile 89.2 3 8707308 (1), 1684088 (1)
    lysosomal storage diseases 87.2 43 1348043 (1), 7860068 (1), 8542433 (1), 9090526 (1) (see all 27)
    demyelination 75 16 7904733 (2), 7866401 (1), 10822308 (1), 15322834 (1) (see all 11)
    sphingolipidoses 67.3 1 18360747 (1)
    krabbe disease 64.2 4 7755846 (1), 10713632 (1), 15275696 (1)
    enzyme deficiency 59.1 4 18797988 (1), 17980709 (1), 1968615 (1)

    GeneTests: ARSA
    GeneReviews: ARSA
    Genetic Association Database (GAD): ARSA
    Human Genome Epidemiology (HuGE) Navigator: ARSA (5 documents)

    Export disorders for ARSA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ARSA gene, integrated from 9 sources (see all 332) (see top 10):
    (articles sorted by number of sources associating them with ARSA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. (PubMed id 15026521)1, 2, 4 Gallo S.... Pandolfo M. (2004)
    2. Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)1, 2, 9 Marcao A.... Sa Miranda M.C. (2003)
    3. High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (PubMed id 8101038)1, 2, 9 Kreysing J.... Gieselmann V. (1993)
    4. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PubMed id 18693274)1, 2, 9 Grossi S....Filocamo M. (2008)
    5. Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. (PubMed id 12459318)1, 4, 9 Bognar S.K....Demarin V. (2002)
    6. Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. (PubMed id 11124905)1, 2, 9 von Buelow R.... Uson I. (2001)
    7. Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. (PubMed id 9888390)1, 2, 9 Berger J.... Bernheimer H. (1999)
    8. An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (PubMed id 8104633)1, 2, 9 Harvey J.S.... Morris C.P. (1993)
    9. Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (PubMed id 15710861)1, 2, 9 Marcao A.M.... Gieselmann V. (2005)
    10. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)1, 2, 9 Ricketts M.H.... Manowitz P. (1998)
    11. Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. (PubMed id 7815433)1, 4, 9 Barth M.L....Fensom A. (1994)
    12. Characterization of new arylsulfatase A gene mutation s reinforces genotype-phenotype correlation in metachromatic leukodystrophy. (PubMed id 19606494)1, 2, 9 Cesani M....Biffi A. (2009)
    13. Molecular basis of different forms of metachromatic leukodystrophy. (PubMed id 1670590)1, 2, 9 Polten A....Gieselmann V. (1991)
    14. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. (PubMed id 1678251)1, 2, 9 Gieselmann V.... von Figura K. (1991)
    15. Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. (PubMed id 16140556)1, 4, 9 Lugowska A....Czartoryska B. (2005)
    16. Crystal structure of a covalent intermediate of endogenous human arylsulfatase A. (PubMed id 12888274)1, 2, 9 Chruszcz M....Lewinski K. (2003)
    17. Evidence for an N-glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans. (PubMed id 11857580)1, 4, 9 Chung I.W....Manowitz P. (2002)
    18. An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. (PubMed id 7902317)1, 2, 9 Honke K.... Makita A. (1993)
    19. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. (PubMed id 1353340)1, 2, 9 Kappler J.... Gieselmann V. (1992)
    20. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (PubMed id 15772092)1, 3, 9 Matzner U....Gieselmann V. (2005)
    21. Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. (PubMed id 11456299)1, 2, 9 Comabella M....Montalban X. (2001)
    22. Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. (PubMed id 9521684)1, 2, 9 Lukatela G.... Saenger W. (1998)
    23. A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms. (PubMed id 9490297)1, 2, 9 Regis S....Gatti R. (1998)
    24. Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene. (PubMed id 9090526)1, 2, 9 Draghia R.... Caillaud C. (1997)
    25. Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile metachromatic leukodystrophy. (PubMed id 8723680)1, 2, 9 Hess B....Gieselmann V. (1996)
    26. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. (PubMed id 7860068)1, 2, 9 Kafert S.... Gieselmann V. (1995)
    27. Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. (PubMed id 7825603)1, 2, 9 Heinisch U....Gieselmann V. (1995)
    28. Molecular genetics of metachromatic leukodystrophy. (PubMed id 7866401)1, 2, 9 Gieselmann V.... Morris C.P. (1994)
    29. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. (PubMed id 7906588)1, 2, 9 Barth M.L.... Harris A. (1993)
    30. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. (PubMed id 1673291)1, 2, 9 Kondo R....Tsuji S. (1991)
    31. Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case. (PubMed id 21265945)1, 2 Hayashi T....Sano A. (2011)
    32. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. (PubMed id 19262745)1, 2 Oshikawa M.... Kato S. (2009)
    33. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    34. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    35. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    36. Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. (PubMed id 11941485)1, 2 Regis S....Filocamo M. (2002)
    37. Allelic variation and environmental lead exposure in urban children. (PubMed id 12473917)1, 4 Long J....Nordstrom B. (2002)
    38. Adult-onset MLD: a gene mutation with isolated polyneuropathy. (PubMed id 11061266)1, 2 Felice K.J....Kaplan R.F. (2000)
    39. Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. (PubMed id 10220151)1, 2 Marcao A.... Sa Miranda M.C. (1999)
    40. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    41. Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation. (PubMed id 9600244)1, 2 Gomez-Lira M.... Salviati A. (1998)
    42. Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy. (PubMed id 9452102)2, 4 Coulter-Mackie M.B. and Gagnier L. (1998)
    43. Identification of seven novel mutations associated with metachromatic leukodystrophy. (PubMed id 7581401)1, 2 Barth M.L.... Harris A. (1995)
    44. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. (PubMed id 7628016)1, 2 Schmidt B.... von Figura K. (1995)
    45. Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing. (PubMed id 7909527)1, 2 Hasegawa Y.... Eto Y. (1994)
    46. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. (PubMed id 8101083)1, 2 Hasegawa Y.... Eto Y. (1993)
    47. Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain. (PubMed id 8095918)1, 2 Barth M.L.... Harris A. (1993)
    48. Proteolytic processing of human lysosomal arylsulfatase A. (PubMed id 1352993)1, 2 Fujii T....Makita A. (1992)
    49. Structure of the arylsulfatase A gene. (PubMed id 1975241)1, 2 Kreysing J.... Gieselmann V. (1990)
    50. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. (PubMed id 2574462)1, 2 Gieselmann V.... von Figura K. (1989)
    51. Cloning and expression of human arylsulfatase A. (PubMed id 2562955)1, 2 Stein C.... von Figura K. (1989)
    52. Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype. (PubMed id 9668161)1, 9 Harvey J.S....Morris C.P. (1998)
    53. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. (PubMed id 17845130)1, 9 Capotondo A....Biffi A. (2007)
    54. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. (PubMed id 1684088)1, 9 Fluharty A.L....Gieselmann V. (1991)
    55. Diagnosis of arylsulfatase A deficiency. (PubMed id 1357970)1, 9 Li Z.G....Chang P.L. (1992)
    56. Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy. (PubMed id 16311251)1, 9 Sevin C....Cartier N. (2006)
    57. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. (PubMed id 15375602)1, 9 Shotelersuk V....Tongkobpetch S. (2004)
    58. Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal to its retrieval site by the KDEL receptor. (PubMed id 10359658)1, 9 Dittmer F. and von Figura K. (1999)
    59. Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. (PubMed id 17660863)1, 9 Matzner U....Gieselmann V. (2007)
    60. Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). (PubMed id 14517960)2, 9 Eng B.... Waye J.S. (2003)
    61. Biochemical characterization of two (C300F, P425T) arylsulfatase A missense mutations. (PubMed id 12503099)2, 9 Marcao A.... Gieselmann V. (2003)
    62. Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy. (PubMed id 11777924)1, 9 von Bulow R....von Figura K. (2002)
    63. Population frequency of the arylsulphatase A pseudo-deficiency allele. (PubMed id 1674719)1, 9 Nelson P.V....Morris C.P. (1991)
    64. An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient. (PubMed id 14571263)1, 9 Regis S....Filocamo M. (2004)
    65. An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. (PubMed id 1676699)1, 9 Bohne W....Gieselmann V. (1991)
    66. ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. (PubMed id 17560502)1, 9 Wang J....Jiang Y. (2007)
    67. Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy. (PubMed id 10751093)2, 9 Hermann S....Gieselmann V. (2000)
    68. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. (PubMed id 10477432)2, 9 Gort L.... Chabas A. (1999)
    69. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. (PubMed id 19021637)1, 9 A8ugowska A....Tylki-SzymaA8ska A. (2009)
    70. Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy. (PubMed id 18768108)1, 9 Onder E....Ozkara H.A. (2009)
    71. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy. (PubMed id 16678723)1, 9 Bertelli M....Pandolfo M. (2006)
    72. Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient. (PubMed id 16782379)1, 9 Regis S....Filocamo M. (2006)
    73. Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type. (PubMed id 16110195)1, 9 L/ugowska A....Jurkiewicz E. (2005)
    74. Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. (PubMed id 15326627)2, 9 Berna L....Ledvinova J. (2004)
    75. Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy. (PubMed id 14680985)2, 9 Olkhovich N.V....Yamashita S. (2003)
    76. Variable onset of metachromatic leukodystrophy in a Vietnamese family. (PubMed id 11020646)2, 9 Arbour L.T.... Coulter-Mackie M.B. (2000)
    77. Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. (PubMed id 10381328)2, 9 Qu Y.... Desnick R.J. (1999)
    78. A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient. (PubMed id 9272717)2, 9 Regis S.... Gatti R. (1997)
    79. Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy. (PubMed id 8891236)2, 9 Tsuda T.... Eto Y. (1996)
    80. Late infantile metachromatic leukodystrophy in Israel. (PubMed id 7858169)1, 9 Zlotogora J....Bach G. (1994)
    81. Complex arylsulfatase A alleles causing metachromatic leukodystrophy. (PubMed id 7981715)1, 9 Kappler J....Gieselmann V. (1994)
    82. Arylsulphatase A activity in human endometrial polyps inversely correlates with aging. (PubMed id 23689179)1 Indraccolo U....Indraccolo S.R. (2013)
    83. Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the hu man insulin receptor. (PubMed id 23192358)1 Boado R.J....Pardridge W.M. (2013)
    84. Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition. (PubMed id 23247813)1 Redgrove K.A....Nixon B. (2013)
    85. The molecular chaperone HSPA2 plays a key role in regu lating the expression of sperm surface receptors that mediate sperm-egg recognit ion. (PubMed id 23209833)1 Redgrove K.A....Aitken R.J. (2012)
    86. Molecular and structural analysis of metachromatic le ukodystrophy patients in Indian population. (PubMed id 21167507)1 Shukla P....Kabra M. (2011)
    87. Dopamine receptors in human adipocytes: expression an d functions. (PubMed id 21966540)1 Borcherding D.C....Ben-Jonathan N. (2011)
    88. Transport of arylsulfatase A across the blood-brain b arrier in vitro. (PubMed id 21454621)1 Matthes F....Matzner U. (2011)
    89. Population carrier rates of pathogenic ARSA gene muta tions: is metachromatic leukodystrophy underdiagnosed? (PubMed id 21695197)1 A8ugowska A....PA8oski R. (2011)
    90. Arylsulfatase a gene polymorphisms in relapsing remit ting multiple sclerosis: genotype-phenotype correlation and estimation of disea se progression. (PubMed id 21648305)1 Baronica K.B....Bognar S.K. (2011)
    91. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    92. Joint influence of small-effect genetic variants on h uman longevity. (PubMed id 20834067)4 Yashin A.I....Ukraintseva S.V. (2010)
    93. Molecular bases of metachromatic leukodystrophy in Polish patients. (PubMed id 20339381)2 Lugowska A.... Tylki-Szymanska A. (2010)
    94. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (2010)
    95. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. (PubMed id 19054018)1 Bisgaard A.M....Christensen E. (2009)
    96. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
    97. Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy. (PubMed id 19224915)1 Matzner U....Gieselmann V. (2009)
    98. Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: insight into mucopolysaccharidosis type VI. (PubMed id 18248830)1 Saito S....Sakuraba H. (2008)
    99. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    100. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (2008)
    101. The echinocandin micafungin: a review of the pharmaco logy, spectrum of activity, clinical efficacy and safety. (PubMed id 17516879)7 Wiederhold N.P. and Lewis J.S. (2007)
    102. Biochemical determinations of arylsulphatase A activity and sulphatide concentrations in decidua of women at 41 and 42 weeks of gestation. (PubMed id 17329011)1 Baldoni E....Vitaioli L. (2007)
    103. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    104. A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. (PubMed id 16368756)2 Roeser D.... Rudolph M.G. (2006)
    105. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
    106. Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. (PubMed id 15962010)1 Zito E....Cosma M.P. (2005)
    107. Micafungin: pharmacology, experimental therapeutics a nd clinical applications. (PubMed id 15882123)7 Groll A.H....Walsh T.J. (2005)
    108. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. (PubMed id 15146462)2 Cosma M.P.... Ballabio A. (2004)
    109. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    110. Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry. (PubMed id 15188402)1 Hassel S....Souchelnytskyi S. (2004)
    111. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    112. High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. (PubMed id 12081727)1 Lugowska A....Molzer B. (2002)
    113. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    114. Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism. (PubMed id 11333871)1 Coulter-Mackie M.B....Ludman M.D. (2001)
    115. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (2000)
    116. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1 Loftus B.J.... Adams M.D. (1999)
    117. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case. (PubMed id 10533072)2 Halsall D.J.... Cox T.M. (1999)
    118. Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations. (PubMed id 9819708)2 Kurosawa K.... Eto Y. (1998)
    119. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
    120. Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene. (PubMed id 7833949)1 Pastor-Soler N.M....Wenger D.A. (1994)
    121. Arylsulfatase A Deficiency (PubMed id 20301309)1 Fluharty A.L. (1993)
    122. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. (PubMed id 1352356)1 Narahara K....Seino Y. (1992)
    123. Effect of suramin on the activities of degradative enz ymes of sphingolipids in rats. (PubMed id 7291729)7 Constantopoulos G....Brady R.O. (1981)
    124. Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. (PubMed id 7192199)1 Geurts van Kessel A.H....Hagemeijer A. (1980)
    125. Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B. (PubMed id 36611)1 DeLuca C....Shows T.B. (1979)
    126. Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity. (PubMed id 1359786)9 Molzer B....Zobel M. (1992)
    127. Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency. (PubMed id 1673113)9 Kappler J....Propping P. (1991)
    128. Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector. (PubMed id 10918495)9 Matzner U....Gieselmann V. (2000)
    129. Interaction of arylsulfatase-A (ASA) with its natural sulfoglycolipid substrates: a computational and site-directed mutagenesis stud y. (PubMed id 19381802)9 Schenk M....Tanphaichitr N. (2009)
    130. Lead causes human fibroblasts to mis-sort arylsulfatase A. (PubMed id 11516520)9 Chen X.G. and Poretz R.D. (2001)
    131. [Arylsulfatase A--physico-chemical properties and the use of enzyme radioimmunoassay in medical diagnosis] (PubMed id 1688265)9 Laidler P.M. (1991)
    132. Arylsulfatases A and B in EBV-transformed lymphoid cell lines: studies on their molecular forms in cells from patients with inborn sulfatase deficiencies. Comparative diagnostic value of enzymatic assays. (PubMed id 1687673)9 Tempesta M.C....Salvayre R. (1991)
    133. Low arylsulphatase A activity in the development of psychiatric disorders. (PubMed id 11174049)9 Mihaljevic-Peles A....Kracun I. (2001)
    134. Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties. (PubMed id 10464659)9 Qu Y....Shapira E. (1997-1998)
    135. Structural characterization of variant forms of arylsulfatase A that associate with alcoholism. (PubMed id 8730213)9 Park D.S....Poretz R.D. (1996)
    136. In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells. (PubMed id 18797988)9 Lagranha V.L....Giugliani R. (2008)
    137. Coexpression of formylglycine-generating enzyme is essential for synthesis and secretion of functional arylsulfatase A in a mouse model of metachromatic leukodystrophy. (PubMed id 16076251)9 Takakusaki Y....Shimada T. (2005)
    138. Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro. (PubMed id 9759937)9 Sangalli A....Severini G.M. (1998)
    139. Gene therapy for metachromatic leukodystrophy. (PubMed id 8677802)9 Ohashi T....Eto Y. (1996)
    140. [Molecular constitution of human arylsulfatase A and its alteration in cancer] (PubMed id 1354240)9 Fujii T. (1992)
    141. Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy. (PubMed id 16613739)9 Bognar S.K....Grubesic Z. (2006)
    142. The interaction of lead exposure and arylsulfatase A genotype affects sulfatide catabolism in human fibroblasts. (PubMed id 10894127)9 Poretz R.D....Manowitz P. (2000)
    143. Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24. (PubMed id 10697958)9 Tsutsudaasano A....Shimada T. (2000)
    144. Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector. (PubMed id 7584122)9 Ohashi T....Eto Y. (1995)
    145. Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency. (PubMed id 1968615)9 Ameen M....Chang P.L. (1990)
    146. Gene therapy of metachromatic leukodystrophy. (PubMed id 15709909)9 Matzner U. and Gieselmann V. (2005)
    147. [Differentiation between arylsulfatase A deficiency and pseudo-deficiency] (PubMed id 14682002)9 Horovenko N.H. and Ol'khovych N.V. (2003)
    148. Arylsulfatase A levels in patients with chronic alcoholism. (PubMed id 11257325)9 Alvarez-Leal M....Hernandez-Tellez A. (2000)
    149. Retrovirally expressed human arylsulfatase A corrects the metabolic defect of arylsulfatase A-deficient mouse cells. (PubMed id 10822308)9 Matzner U....Gieselmann V. (2000)
    150. Interaction of arylsulfatase A with UDP-N-acetylglucosamine:Lysosomal enzyme-N-acetylglucosamine-1-phosphotransferase. (PubMed id 9920914)9 Schierau A....Gieselmann V. (1999)
    151. A new polymorphism of arylsulfatase A within the coding region. (PubMed id 8707308)9 Berger J....Bernheimer H. (1996)
    152. Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms. (PubMed id 8750609)9 Leistner S....Winchester B. (1995)
    153. Molecular genetics of metachromatic leukodystrophy. (PubMed id 1687778)9 Gieselmann V....von Figura K. (1991)
    154. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy. (PubMed id 1671769)9 Gieselmann V. (1991)
    155. Steroid sulfatase, arylsulfatases A and B, galactose-6-sulfatase, and iduronate sulfatase in mammary cells and effects of sulfated and non-sulfated estrogens on sulfatase activity. (PubMed id 17064891)9 Bhattacharyya S. and Tobacman J.K. (2007)
    156. [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy] (PubMed id 12442547)9 Horovenko N.H....Pichkur N.O. (2002)
    157. Increased prevalence of pervasive developmental disorders in children with slight arylsulfatase A deficiency. (PubMed id 12427515)9 Alessandri M.G....Fornai F. (2002)
    158. Evaluation of leukocyte arylsulfatase-A activity in patients with breast cancer and benign breast disease. (PubMed id 11295292)9 Turkmen S....Eryavuz Y. (2001)
    159. DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point. (PubMed id 9056111)9 Coulter-Mackie M.B....Vallance H. (1997)
    160. Arylsulfatase A and beta-galactosidase activities in leukocytes and lymphocytes from normal and psychiatric subjects. Effects of blood-processing delay and interleukin-2 stimulation. (PubMed id 7755846)9 Shah S.N....Schoenfeld F. (1995)
    161. Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor. (PubMed id 7913281)9 Martinelli P....Sangiorgi S. (1994)
    162. Transport of newly synthesized arylsulfatase A to the lysosome via transferrin receptor-positive compartments. (PubMed id 7902710)9 Diesner F....Braulke T. (1993)
    163. Synthesis and characterization of NBD-PS: a fluoresce nt analog of cerebroside arylsulfatase A deficiency disorders. (PubMed id 1680331)9 Louis A.I....Fluharty A.L. (1991)
    164. Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients. (PubMed id 1683156)9 Sangiorgi S....Mochi M. (1991)
    165. Cell-surface arylsulfatase A and B on sinusoidal endo thelial cells, hepatocytes, and Kupffer cells in mammalian livers. (PubMed id 19536613)9 Mitsunaga-Nakatsubo K....Akimoto Y. (2009)
    166. Identification of a new Arylsulfatase A (ARSA) gene m utation in Tunisian patients with metachromatic leukodystrophy (MLD). (PubMed id 19699491)9 Dorboz I....Boespflug-Tanguy O. (2009)
    167. Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts. (PubMed id 17341424)9 Consiglio A....Bordignon C. (2007)
    168. In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patients. (PubMed id 16982334)9 Muller I....Bruchelt G. (2006)
    169. Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy. (PubMed id 15862354)9 Martino S....Orlacchio A. (2005)
    170. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. (PubMed id 12809637)9 Rafi M.A....Wenger D.A. (2003)
    171. Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages. (PubMed id 12296771)9 Muschol N....Braulke T. (2002)
    172. Sneddon syndrome, arylsulfatase A pseudodeficiency and impairment of cerebral white matter. (PubMed id 11042423)9 Parmeggiani A....Rossi P.G. (2000)
    173. Practical suggestions in diagnosing metachromatic leu kodystrophy in probands and in testing family members. (PubMed id 9693234)9 Tylki-SzymaA8ska A.T....Lugowska A. (1998)
    174. Retroviral gene transfer and sustained expression of human arylsulfatase A. (PubMed id 8732166)9 Learish R....Barranger J.A. (1996)
    175. Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency. (PubMed id 7710377)9 Hageman A.T....Wevers R.A. (1995)
    176. Four monoclonal antibodies inhibit the recognition of arylsulphatase A by the lysosomal enzyme phosphotransferase. (PubMed id 7506530)9 Sommerlade H.J....Gieselmann V. (1994)
    177. Characterization of human arylsulfatase A glycans. (PubMed id 7890120)9 Laidler P....Wojczyk B. (1994)
    178. Arylsulfatase A (ASA) defect and psychiatric illness. A review. (PubMed id 1981468)9 Shah S.N. (1990)
    179. Leucocyte arylsulphatase A activity and subtypes of chronic schizophrenia. (PubMed id 1975970)9 Heavey A.M....Crammer J.L. (1990)
    180. Efficient intracerebral delivery of AAV5 vector encod ing human ARSA in non-human primate. (PubMed id 19837699)9 Colle M.A....Sevin C. (2010)
    181. Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer. (PubMed id 17093507)9 Sevin C....Cartier N. (2007)
    182. [Analysis of ARSA mutations in a Chinese family with metachromatic leukodystrophy] (PubMed id 16883521)9 Wang J.M....Wu X.R. (2006)
    183. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. (PubMed id 11231629)9 Consiglio A....Naldini L. (2001)
    184. Leukocyte arylsulfatase A activity in patients with alcohol-related cirrhosis. (PubMed id 11460894)9 Alvarez-Leal M....Hernandez-Tellez A. (2001)
    185. Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy. (PubMed id 9096767)9 Berger J....Molzer B. (1997)
    186. Delayed posthypoxic demyelination. Association with arylsulfatase A deficiency and lactic acidosis on proton MR spectroscopy. (PubMed id 9371929)9 Gottfried J.A....Duyn J.H. (1997)
    187. Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype. (PubMed id 8837707)9 Ricketts M.H....Manowitz P. (1996)
    188. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele. (PubMed id 9007312)9 Tylki-Szymanska A....Molzer B. (1996)
    189. Arylsulfatase A pseudodeficiency--incidence in Poland. (PubMed id 8946177)9 Czartoryska B....Gorska D. (1996)
    190. Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency. (PubMed id 8791255)9 Matsuyama W....Osame M. (1996)
    191. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews. (PubMed id 7749412)9 Zlotogora J....Gieselmann V. (1995)
    192. Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy. (PubMed id 7908874)9 Tinuper P....Lugaresi E. (1994)
    193. Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency. (PubMed id 8456837)9 Shen N....Chang P.L. (1993)
    194. Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association with multiple sclerosis? (PubMed id 1687779)9 Kappler J....Propping P. (1991)
    195. Arylsulfatase A in serum from patients with cancer of various organs. (PubMed id 1687888)9 Laidler P....Silberring J. (1991)
    196. Widespread enzymatic correction of CNS tissues by a s ingle intracerebral injection of therapeutic lentiviral vector in leukodystroph y mouse models. (PubMed id 20203170)9 Lattanzi A....Gritti A. (2010)
    197. Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects. (PubMed id 17980709)9 Colsch B....Baumann N. (2008)
    198. Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency. (PubMed id 17616409)9 Deconinck N....Dan B. (2008)
    199. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. (PubMed id 18339182)9 Gieselmann V. (2008)
    200. A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy. (PubMed id 17204333)9 Saravanan K....Franken S. (2007)
    201. Tyrosine sulfation of arylsulfatase A and its peptide. (PubMed id 16712511)9 Kasinathan C....Manowitz P. (2006)
    202. A novel mass spectrometric assay for the cerebroside sulfate activator protein (saposin B) and arylsulfatase A. (PubMed id 16061947)9 Norris A.J....Faull K.F. (2005)
    203. Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy. (PubMed id 15139291)9 Yaghootfam A....Gieselmann V. (2004)
    204. Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution. (PubMed id 15322834)9 Wittke D....LA1llmann-Rauch R. (2004)
    205. Metachromatic leukodystrophy: recent research developments. (PubMed id 14572136)9 Gieselmann V. (2003)
    206. Characterization of inhibitors acting at the synthetase site of Escherichia coli asparagine synthetase B. (PubMed id 11551215)9 Boehlein S.K....Schuster S.M. (2001)
    207. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland. (PubMed id 10965162)9 Lugowska A....Molzer B. (2000)
    208. Serum adenosine deaminase and arylsulphatase A as an index of early infiltration of central nervous system in acute lymphoblastic leukemia. (PubMed id 17249214)9 Hussein N.G. and el-Belbessy S.F. (1998)
    209. Ichthyosis: the skin manifestation of multiple sulfatase deficiency. (PubMed id 9336808)9 Castano Suarez E....Coll Rosell M.J. (1997)
    210. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. (PubMed id 8962139)9 Hess B....Gieselmann V. (1996)
    211. Expression of the human glucocerebrosidase and arylsulfatase A genes in murine and patient primary fibroblasts transduced by an adeno-associated virus vector. (PubMed id 7584090)9 Wei J.F....Barranger J.A. (1994)
    212. Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency. (PubMed id 7904733)9 Weinberger L.M....Raghavan S. (1994)
    213. Relationship of some endogenous sex steroid hormones to leukocyte arylsulphatase A activities in pre- and postmenopausal healthy women. (PubMed id 7927195)9 Oner P....Argun A. (1994)
    214. Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. (PubMed id 2019586)9 Holtschmidt H....Suzuki K. (1991)
    215. Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (PubMed id 19815439)9 Tan M.A....Meikle P.J. (2010)
    216. Site-specific analysis of N-linked oligosaccharides o f recombinant lysosomal arylsulfatase A produced in different cell lines. (PubMed id 19864504)9 SchrAPder S....Matzner U. (2010)
    217. Arylsulfatase B regulates colonic epithelial cell mig ration by effects on MMP9 expression and RhoA activation. (PubMed id 19306108)9 Bhattacharyya S. and Tobacman J.K. (2009)
    218. Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy. (PubMed id 19174759)9 Matzner U....Gieselmann V. (2009)
    219. Acute kidney injury induced by protein-overload nephr opathy down-regulates gene expression of hepatic cerebroside sulfotransferase i n mice, resulting in reduction of liver and serum sulfatides. (PubMed id 19895791)9 Zhang X....Hara A. (2009)
    220. Reduced expression of sulfatides and galactosylceramide 3'-sulfotransferase in the gastric mucosa of chronic gastritis. (PubMed id 18097285)9 Osawa H....Sugano K. (2008)
    221. Direct evidence for ArO-S bond cleavage upon inactivation of Pseudomonas aeruginosa arylsulfatase by aryl sulfamates. (PubMed id 18288656)9 BojarovA! P....Williams S.J. (2008)
    222. Non-inhibitory antibodies impede lysosomal storage re duction during enzyme replacement therapy of a lysosomal storage disease. (PubMed id 18360747)9 Matzner U....Gieselmann V. (2008)
    223. Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (PubMed id 17715338)9 Eckhardt M....Gieselmann V. (2007)
    224. Human sulfatases: a structural perspective to catalysis. (PubMed id 17558559)9 Ghosh D. (2007)
    225. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (PubMed id 17347913)9 Sevin C....Cartier N. (2007)
    226. Stabilization of juvenile metachromatic leukodystroph y after bone marrow transplantation: a 13-year follow-up. (PubMed id 17890417)9 GAPrg M....KohlschA1tter A. (2007)
    227. The effect of whole-body cryostimulation on lysosomal enzyme activity in kayakers during training. (PubMed id 17458576)9 Wozniak A....Rakowski A. (2007)
    228. Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy. (PubMed id 17728461)9 Ramakrishnan H....Eckhardt M. (2007)
    229. Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (PubMed id 16554462)9 Givogri M.I....Bongarzone E. (2006)
    230. An arylsulphatase A (ARSA) frameshift mutation (289in sG) in metachromatic leukodystrophy (MLD). (PubMed id 19565006)9 Perkins K.J....Morris C.P. (2005)
    231. Delay of myelin formation in arylsulphatase A-deficient mice. (PubMed id 15733089)9 Yaghootfam A....Eckhardt M. (2005)
    232. Evaluation of leukocyte arylsulphatase a, serum interleukin-6 and urinary heparan sulphate following tamoxifen therapy in breast cancer. (PubMed id 16011900)9 Oner-IyidoA9an Y....Ozbek-Kir Z. (2005)
    233. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. (PubMed id 15720392)9 Poeppel P....Gieselmann V. (2005)
    234. Three-dimensional structures of sulfatases. (PubMed id 16399355)9 Ghosh D. (2005)
    235. Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India. (PubMed id 16291896)9 Bindu P.S....Shankar S.K. (2005)
    236. A mucolipidosis III patient presenting characteristic sonographic and magnetic resonance imaging findings of claw hand deformity. (PubMed id 15361946)9 Chen H.H....Lan H.H. (2004)
    237. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. (PubMed id 15446395)9 Nalini A. and Christopher R. (2004)
    238. Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? (PubMed id 15060811)9 Battisti C....Federico A. (2004)
    239. Phytoestrogens are potent inhibitors of estrogen sulfation: implications for breast cancer risk and treatment. (PubMed id 15070945)9 Harris R.M....Kirk C.J. (2004)
    240. Sphingolipidoses in Turkey. (PubMed id 15275696)9 Ozkara H.A. and TopAsu M. (2004)
    241. Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. (PubMed id 15193296)9 Saravanan K....Franken S. (2004)
    242. Rat submandibular gland during the maturation process: changes in enzyme activities, protein and lectin-binding profiles. (PubMed id 15209540)9 PrzybyA8o M....Kremser E. (2004)
    243. Infantile metachromatic leukodystrophy (MLD) in a com pound heterozygote for the c.459 + 1G > A mutation and a complete deletion o f the ARSA gene. (PubMed id 15211666)9 Eng B....Waye J.S. (2004)
    244. Determination of diagnostic and prognostic values of urinary interleukin-8, tumor necrosis factor-alpha, and leukocyte arylsulfatase-A activity in patients with bladder cancer. (PubMed id 15302609)9 KoAsak H....Oner P. (2004)
    245. Characterization of a recombinant molecule covalently indistinguishable from human cerebroside-sulfate activator protein (CSAct or Saposin B). (PubMed id 14528917)9 Whitelegge J.P....Fluharty A.L. (2003)
    246. Crystal structure of saposin B reveals a dimeric shell for lipid binding. (PubMed id 12518053)9 Ahn V.E.... Prive G.G. (2003)
    247. 6-(2-adamantan-2-ylidene-hydroxybenzoxazole)-O-sul famate: a potent non-steroidal irreversible inhibitor of human steroid sulfatase. (PubMed id 14643316)9 Schreiner E.P....Billich A. (2003)
    248. Metachromatic leukodystrophy. Diffusion MR imaging an d proton MR spectroscopy. (PubMed id 12846696)9 Sener R.N. (2003)
    249. [Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia] (PubMed id 12920791)9 Honzik T....Zeman J. (2003)
    250. Recognition of arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-phosphotransferase. (PubMed id 12783870)9 Yaghootfam A....Gieselmann V. (2003)
    251. Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PubMed id 12510003)9 Ahn V.E....Prive G.G. (2003)
    252. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? (PubMed id 12445909)9 Baumann N....Colsch B. (2002)
    253. Characterization of iodothyronine sulfatase activities in human and rat liver and placenta. (PubMed id 11861502)9 Kester M.H....Visser T.J. (2002)
    254. Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations. (PubMed id 11850723)9 Matzner U....Gieselmann V. (2002)
    255. The sodium salt of 2-hydroxy-5-nitrobenzylsulfonic acid. (PubMed id 11870284)9 Chruszcz M. and Lewinski K. (2002)
    256. Pitfalls in the diagnosis of multiple sulfatase deficiency. (PubMed id 11315200)9 Mancini Coo R.F. (2001)
    257. Analysis of arylsulfatases A and B, acid phosphatase, lactate dehydrogenase, and aspartate transaminase in chronic periapical lesions of endodontic origin. (PubMed id 11485269)9 Khayat A....Rasti M. (2001)
    258. Hyperactivity, neuromotor defects, and impaired learning and memory in a mouse model for metachromatic leukodystrophy. (PubMed id 11430883)9 D'Hooge R....De Deyn P.P. (2001)
    259. Lead alters the developmental profile of the galactolipid metabolic enzymes in cultured oligodendrocyte lineage cells. (PubMed id 11577801)9 Deng W. and Poretz R.D. (2001)
    260. Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. (PubMed id 11499846)9 Schott I....LA1llmann-Rauch R. (2001)
    261. Conserved core structure and active site residues in alkaline phosphatase superfamily enzymes. (PubMed id 11746679)9 Galperin M.Y. and Jedrzejas M.J. (2001)
    262. Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy). (PubMed id 10713632)9 deGasperi R....Krivit W. (2000)
    263. Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. (PubMed id 10973130)9 Burin M....Giugliani R. (2000)
    264. Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes. (PubMed id 10814710)9 Sukegawa K....Kondo N. (2000)
    265. High-mannose-type oligosaccharides from human placental arylsulfatase A are core fucosylated as confirmed by MALDI MS. (PubMed id 10814696)9 Hoja-Lukowicz D....Laidler P. (2000)
    266. Disulfide connectivity in cerebroside sulfate activator is not necessary for biological activity or alpha-helical content but is necessary for trypsin resistance and strong ligand binding. (PubMed id 10775412)9 Faull K.F....Fluharty A.L. (2000)
    267. Biochemical effects of vinyl chloride monomer on the liver of occupationally exposed workers. (PubMed id 12197357)9 Saad A.A....Mahdy M.M. (2000)
    268. Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B). (PubMed id 11045609)9 Whitelegge J.P....Fluharty A.L. (2000)
    269. Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies. (PubMed id 10222002)9 BernA! L....LedvinovA! J. (1999)
    270. Neurophysiology and MRI in late-infantile metachromat ic leukodystrophy. (PubMed id 10593679)9 Zafeiriou D.I....Gombakis N.P. (1999)
    271. Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. (PubMed id 10560915)9 KoAs O.N....Krivit W. (1999)
    272. Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency. (PubMed id 10406672)9 Battisti C....Federico A. (1999)
    273. Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. (PubMed id 10205163)9 Dierks T....von Figura K. (1999)
    274. Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding. (PubMed id 10212197)9 Waldow A....von Figura K. (1999)
    275. Metachromatic leukodystrophy: molecular genetics and an animal model. (PubMed id 9728336)9 Gieselmann V....Nagels G. (1998)
    276. Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine. (PubMed id 9497327)9 Recksiek M....von Figura K. (1998)
    277. Residues critical for formylglycine formation and/or catalytic activity of arylsulfatase A. (PubMed id 9760228)9 Knaust A....von Figura K. (1998)
    278. A superfamily of metalloenzymes unifies phosphopentomutase and cofactor-independent phosphoglycerate mutase with alkaline phosphatases and sulfatases. (PubMed id 10082381)9 Galperin M.Y....Koonin E.V. (1998)
    279. Arylsulfatase A from human placenta possesses only high mannose-type glycans. (PubMed id 9202426)9 Laidler P. and Litynska A. (1997)
    280. Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. (PubMed id 9402957)9 Ott R....Chang P.L. (1997)
    281. Menstrual cycle-associated regulation of anabolic and catabolic enzymes causes luteal phase-characteristic expression of sulfatide in human endometrium. (PubMed id 9024105)9 Kamei K....Iwamori M. (1997)
    282. Permeability of alginate microcapsules to secretory recombinant gene products. (PubMed id 18629920)9 Awrey D.E....Chang P.L. (1996)
    283. Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A. (PubMed id 8730212)9 Park D.S....Manowitz P. (1996)
    284. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. (PubMed id 8982952)9 Lissens W....Liebaers I. (1996)
    285. Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy. (PubMed id 8554069)9 Henseler M....Sandhoff K. (1996)
    286. Expression of the three alternative forms of the sphingolipid activator protein precursor in baby hamster kidney cells and functional assays in a cell culture system. (PubMed id 8626540)9 Henseler M....Sandhoff K. (1996)
    287. A novel arylsulfatase A protein variant and genotype in two patients with major depression. (PubMed id 8897113)9 Ricketts M.H....Manowitz P. (1996)
    288. Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype. (PubMed id 7584110)9 Ohashi T....Eto Y. (1995)
    289. [Activity of aryl sulfatase A enzyme in patients with schizophrenic disorders] (PubMed id 8584809)9 Alvarez Leal M....ZA_A+iga Charles M.A. (1995)
    290. Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments. (PubMed id 7847447)9 Ben-Yoseph Y. and Mitchell D.A. (1995)
    291. A method for rapid detection of arylsulfatase A pseud odeficiency mutations. (PubMed id 7558057)9 Ricketts M.H....Manowitz P. (1995)
    292. Genetics of metachromatic leukodystrophy. (PubMed id 8542433)9 Gieselmann V....von Figura K. (1994)
    293. Pseudopregnancy-dependent accumulation of cholesterol sulfate due to up-regulation of cholesterol sulfotransferase and concurrent down-regulation of cholesterol sulfate sulfatase in the uterine endometria of rabbits. (PubMed id 7852287)9 Momoeda M....Iwamori M. (1994)
    294. Hepatocyte growth factor elevates the activity levels of glycolipid sulfotransferases in renal cell carcinoma cells. (PubMed id 8307006)9 Kobayashi T....Makita A. (1994)
    295. A study on enzyme activities of some sphingolipidoses. (PubMed id 7974812)9 Ozkara H.A....Renda Y. (1994)
    296. [Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy] (PubMed id 7908863)9 Ohshima T....Sakuragawa N. (1994)
    297. Processing of human acid sphingomyelinase in normal and I-cell fibroblasts. (PubMed id 8106525)9 Hurwitz R....Sandhoff K. (1994)
    298. Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer. (PubMed id 7908679)9 Ohshima T....Sakuragawa N. (1994)
    299. Expression of acidic glycosphingolipids and arylsulphatase A activity in human pathological endometrium. (PubMed id 7913898)9 Vitaioli L....Indraccolo S.R. (1994)
    300. Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene. (PubMed id 7909249)9 Harvey J.S....Morris C.P. (1994)
    301. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. (PubMed id 7901143)9 Berger J....Bernheimer H. (1993)
    302. Epidermal growth factor elevates the activity levels of glycolipid sulfotransferases in renal-cell-carcinoma cells. (PubMed id 8104164)9 Kobayashi T....Makita A. (1993)
    303. Regulation of activity levels of glycolipid sulfotransferases by transforming growth factor alpha in renal cell carcinoma cells. (PubMed id 7902207)9 Kobayashi T....Makita A. (1993)
    304. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease. (PubMed id 8095368)9 Penzien J.M....Zierz S. (1993)
    305. Biochemical and histochemical analysis of the enzyme arylsulfatase in human lesions of endodontic origin. (PubMed id 8245755)9 Aqrabawi J....Franzblau C. (1993)
    306. The effect of carbohydrate removal on stability and activity of saposin B. (PubMed id 8099782)9 Hiraiwa M....Kishimoto Y. (1993)
    307. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. (PubMed id 8455580)9 Eto Y....Tokoro T. (1993)
    308. Clinical application of intrauterine bone marrow transplantation for treatment of genetic diseases--feasibility studies. (PubMed id 1504665)9 Slavin S....Lewin A. (1992)
    309. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. (PubMed id 1572648)9 Grompe M....Ballabio A. (1992)
    310. The structural basis for the electrophoretic isoforms of normal and variant human platelet arylsulphatase A. (PubMed id 1359879)9 Poretz R.D....Manowitz P. (1992)
    311. Characterization of three arylsulfatases in semen: seminolipid sulfohydrolase activity is present in seminal plasma. (PubMed id 1358201)9 Gadella B.M....Lopes-Cardozo M. (1992)
    312. Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency. (PubMed id 1350885)9 Rafi M.A....Wenger D.A. (1992)
    313. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. (PubMed id 1348358)9 Rommerskirch W. and von Figura K. (1992)
    314. Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. (PubMed id 1348043)9 Leinekugel P....Sandhoff K. (1992)
    315. Lysosomal acid phosphatase is not involved in the dephosphorylation of mannose 6-phosphate containing lysosomal proteins. (PubMed id 1353723)9 Bresciani R....von Figura K. (1992)
    316. In vitro mutagenesis of potential N-glycosylation sites of arylsulfatase A. Effects on glycosylation, phosphorylation, and intracellular sorting. (PubMed id 1352293)9 Gieselmann V....von Figura K. (1992)
    317. Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. (PubMed id 1687776)9 Baumann N....Turpin J.C. (1991)
    318. [Assays of arylsulfatase activity in psychotic patients. Review of the literature and results of a study of 22 patients] (PubMed id 2050000)9 Lejoyeux M....LempAcriA"re T. (1991)
    319. Morquio disease: isolation, characterization and expression of full- length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PubMed id 1755850)9 Tomatsu S.... Orii T. (1991)
    320. Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. (PubMed id 1776456)9 Hwu W.L. and Wang T.R. (1991)
    321. Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer. (PubMed id 1684103)9 Rommerskirch W....Gieselmann V. (1991)
    322. Glycosphingolipid specificity of the human sulfatide activator protein. (PubMed id 1889421)9 Vogel A....Sandhoff K. (1991)
    323. Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. (PubMed id 1687777)9 Wenger D.A. and Louie E. (1991)
    324. Multiple sulfatase deficiency with early severe retinal degeneration. (PubMed id 1875023)9 Harbord M....Clarke J.T. (1991)
    325. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. (PubMed id 2122463)9 Wilson P.J.... Hopwood J.J. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
    Free Text  

      Query String
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 410 HGNC: 713 AceView: ARSA Ensembl:ENSG00000100299 euGenes: HUgn410
    ECgene: ARSA Kegg: 410 H-InvDB: ARSA

    (According to HUGE)
    About This Section

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    PharmGKB entry for ARSA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ARSA gene:
    Search GeneIP for patents involving ARSA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

     Antibodies for ARSA (Arylsulfatase A/ARSA)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for ARSA (Arylsulfatase A/ARSA)  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for ARSA   OriGene RNAi products in human, mouse, rat for ARSA  
     OriGene qPCR primer pairs and template standards for ARSA   OriGene Protein Over-expression Lysate for ARSA  
     OriGene MassSpec something-or-other for ARSA   OriGene clones in human, mouse for ARSA  
     OriGene qSTAR qPCR primer pairs in human, mouse for ARSA   OriGene Purified Protein for ARSA  
     OriGene ORF clones in mouse, rat for ARSA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ARSA   OriGene Custom Protein Services for ARSA  

     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARSA
     QIAGEN SeqTarget long-range PCR primers for resequencing ARSA
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSA
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSA
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSA
     GenScript Custom Purified and Recombinant Proteins Services for ARSA GenScript cDNA clones with any tag delivered in your preferred vector for ARSA
     GenScript Custom Assay Services for ARSA GenScript Custom Superior Antibodies Services for ARSA
     GenScript Custom overexpressing Cell Line Services for ARSA CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ARSA promoter
     Search Chromatin IP Primers for ARSA
     RT2 qPCR Primer Assay in human, mouse, rat ARSA
     Search GNC Networks for ARSA
     SABiosciences Custom PCR Arrays for ARSA
     Search Tocris compounds for ARSA
     Proteins and Antibodies for ARSA
     Cell Lysates for ARSA
     cDNA Clones for ARSA
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ARSA antibodies
     ARSA proteins
     ARSA lysates
     Antibodies for ARSA
     See all of Abcam's Antibodies, Kits and Proteins for ARSA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins

     Proteins for ARSA
     Antibodies for ARSA
     ELISAs for ARSA
     CLIAs for ARSA
     Search LifeMap BioReagents cell lines for ARSA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA
     Browse SwitchGear 3'UTR luciferase reporter plasmids for ARSA
     SwitchGear Promoter luciferase reporter plasmids for ARSA
     ThermoFisher Antibody for ARSA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA
     inGenious Targeting Laboratory - Custom generated mouse model solutions for ARSA
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ARSA
     lentivirus for stable overexpression of ARSA
     lentivirus expression plasmids for stable overexpression of ARSA
     adenovirus for overexpression of ARSA
     LSBio Antibodies in human, mouse, rat for ARSA
    Customized transgenic rodents for:
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ARSA gene at Home site.
    hostname: index build: 106 solr: 1.4