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ARSA Gene

protein-coding   GIFtS: 70
GCID: GC22M051063

Arylsulfatase A

  See ARSA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arylsulfatase A1 2     cerebroside-sulfatase2
ASA2 3     Cerebroside-sulfatase3
Metachromatic Leucodystrophy1     EC 3.1.6.83
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, juvenile form, and cerebral lipidosis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011526.8  NC_018933.2  
Regulatory elements:
   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 Chromatin IP Primers for ARSA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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)

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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;
Selected 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: 

  • 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)1
  • Glycosylation2 at Asn158, Asn184, Asn350
  • 2 DME Specific Peptides for ARSA (P15289)
     GKYKAHF  PSRAALLTGRLP 


    See ARSA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000477013   ENSP00000348406   ENSP00000216124   ENSP00000378983   ENSP00000412542  
     ENSP00000378981   ENSP00000448440   ENSP00000448932  
    Reactome Protein details: P15289

    ARSA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ARSA
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    Novus Biologicals ARSA Proteins
    Novus Biologicals ARSA Lysates
    Sino Biological Recombinant Protein for ARSA
    Sino Biological Cell Lysate for ARSA
    ProSpec Recombinant Protein for ARSA
    Cloud-Clone Corp. Proteins for ARSA

     
    Search eBioscience for Proteins for ARSA 

     
    antibodies-online proteins for ARSA (10 products) 

     
    antibodies-online peptides for ARSA

    ARSA Antibody Products:

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    antibodies-online antibodies for ARSA (71 products) 

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    antibodies-online kits for ARSA (23 products) 


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

    4 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR000917 Sulfatase
     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


    Find genes that share domains with ARSA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 3.1.6.81 EC 3.1.62

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004065arylsulfatase activity IEA--
    GO:0004098cerebroside-sulfatase activity TAS--
    GO:0005509calcium ion binding IDA12888274
    GO:0008484sulfuric ester hydrolase activity IDA15962010
         
    Find genes that share ontologies with ARSA           About GenesLikeMe


    Phenotypes:
         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 

    Find genes that share phenotypes with ARSA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Arsatm1Gie for ARSA

       genOway: Develop your customized and physiologically relevant rodent model for ARSA

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARSA:
    hsa-mir-335-5p (MIRT018147)

    Block miRNA regulation of human, mouse, rat ARSA using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat ARSA

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARSA_HUMAN, P15289: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    endoplasmic reticulum4
    cytosol2
    endosome2
    golgi apparatus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm ----
    GO:0005764lysosome TAS2562955
    GO:0005768endosome IEA--

    Find genes that share ontologies with ARSA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ARSA About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    Sphingolipid metabolism0.61
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    The activation of arylsulfatases0.00
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5Lysosome
    Lysosome


    Find genes that share SuperPaths with ARSA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for ARSA
        Glycosphingolipid metabolism
    The activation of arylsulfatases


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARSA
    Interactions:

        Search GeneGlobe Interaction Network for ARSA

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

    Selected 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): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006914autophagy IEA--
    GO:0007339binding of sperm to zona pellucida IEA--
    GO:0007417central nervous system development IEA--

    Find genes that share ontologies with ARSA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARSA

    Selected 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----
    enzyme----

    Selected 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)



    Find genes that share compounds with ARSA           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARSA gene (5 alternative transcripts): 
    NM_000487.5  NM_001085425.2  NM_001085426.2  NM_001085427.2  NM_001085428.2  

    Unigene Cluster for ARSA:

    Arylsulfatase A
    Hs.88251  [show with all ESTs]
    Unigene Representative Sequence: NM_000487
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000610191 ENST00000608497 ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
    ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
    ENST00000547307 ENST00000547805
    miRNA
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat ARSA
      QuantiFast Probe-based Assays in human, mouse, rat ARSA

    Additional mRNA sequence: 

    AB448736.1 AK092752.1 AK098659.1 AK315011.1 BC014210.2 BX648618.1 CR456383.1 X52151.1 

    15 DOTS entries:

    DT.100877746  DT.453952  DT.100731419  DT.65287834  DT.95337986  DT.100028446  DT.100644967  DT.100877740 
    DT.100877741  DT.100877744  DT.120644762  DT.40230542  DT.91745500  DT.95337982  DT.97844860 

    Selected AceView cDNA sequences (see all 228):

    CR607373 C01652 BP367614 BG035223 CB124424 CR598173 CB126238 AI459538 
    BX365605 BQ184813 BQ917626 CB151533 CR590422 BM763358 CB306644 BM547797 
    BU632246 CR600807 R96096 CA423492 T28370 BQ109579 CB125745 BE465784 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ARSA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCTGGCG
    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
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ARSA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARSA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.88251
        Custom PCR Arrays for ARSA
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ARSA
    OriGene qSTAR qPCR primer pairs in human, mouse for ARSA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSA
    QuantiTect SYBR Green Assays in human, mouse, rat ARSA
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ARSA gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arsa1 , 5 arylsulfatase A1, 5 83.68(n)1
    87.6(a)1
      15 (44.94 cM)5
    118831  NM_009713.41  NP_033843.21 
     894724765 
    chicken
    (Gallus gallus)
    Aves ARSA1 arylsulfatase A 67.43(n)
    66.32(a)
      426863  XM_424471.4  XP_424471.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARSA6
    arylsulfatase A
    67(a)
    1 ↔ 1
    GL343765.1(209941-216295)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arsa1 arylsulfatase A 58.75(n)
    57.71(a)
      100486429  XM_002938291.2  XP_002938337.2 
    zebrafish
    (Danio rerio)
    Actinopterygii arsa1 arylsulfatase A 59.82(n)
    58.28(a)
      541416  NM_001013543.2  NP_001013561.2 
    worm
    (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 4Pseudogene.org Build 68)
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    Paralogs for ARSA gene
    ARSF2  ARSI2  ARSJ2  ARSG2  STS2  ARSH2  ARSB2  GALNS2  
    ARSE2  ARSD2  
    3 SIMAP similar genes for ARSA using alignment to 2 protein entries:     ARSA_HUMAN (see all proteins):
    DKFZp686G12235    GALNS    ARSG

    Find genes that share paralogs with ARSA           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARSA (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289408931,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006735(-) GCCCCC/TGCTGC 10 P L mis1 ese31Minor allele frequency- T:0.00NA 3842
    rs743154851,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006739(-) ATGAGA/CCCCCG 10 T P mis10--------
    rs743154811,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006786(-) TACCAC/TTGCAG 10 T I mis10--------
    rs289408951,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006789(-) TGATAC/TCACTG 10 T I mis1 ese30--------
    rs1994763911,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006957(-) TGTGCG/AGACTG 10 /Q /R mis11Minor allele frequency- A:0.00EU 1315
    rs743154801,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006958(-) CTGTGC/TGGACT 10 R W mis10--------
    rs1994763701,2,,4
    CLeukodystrophy metachromatic (MLD)4 untested135006976(-) AGGTCC/TGTGGG 10 R C mis10--------
    rs743154791,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006982(-) CAGACA/GAGGTC 10 K E mis10--------
    rs61514251,2,,4
    C,F,HLeukodystrophy metachromatic (MLD)4 untested135006983(-) CCAGAC/G/TGAGGT 10 D E mis1 ese322NS NA EU 8383
    rs743154781,2,,4
    CLeukodystrophy metachromatic (MLD)4 pathogenic135006996(-) CTACCA/C/TGTCCT 10 P L mis11NA 4486

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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
    3-oxoalanine

  • 20 diseases for ARSA:    
    About MalaCards
    metachromatic leukodystrophy, juvenile form    cerebral lipidosis    nervous system cancer    metachromatic leukodystrophy, late infantile form
    metachromatic leukodystrophy    metachromatic leukodystrophy, adult form    central nervous system cancer    gangliosidosis gm1
    sandhoff disease    fabry disease    mucosulfatidosis    sneddon syndrome
    krabbe disease    tay-sachs disease    wilson disease    choroideremia
    leukodystrophy    breast disease    pervasive developmental disorder    gaucher's disease

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

    Find genes that share disorders with ARSA           About GenesLikeMe

    Selected 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)
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    PubMed articles for ARSA gene, integrated from 10 sources (see all 334) (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. (J. Neurol. Neurosurg. Psych. 2004)
    2. Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)1, 2, 9 Marcao A.... Sa Miranda M.C. (Biochem. Biophys. Res. Commun. 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. (Am. J. Hum. Genet. 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. (Hum. Mutat. 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. (Arch. Med. Res. 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. (J. Mol. Biol. 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. (Hum. Mutat. 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. (Hum. Mutat. 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. (Arch. Neurol. 2005)
    10. The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)1, 2, 9 Ricketts M.H.... Manowitz P. (Hum. Mutat. 1998)
    11. Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. (PubMed id 7815433)1, 4, 9 Barth M.L....Fensom A. (J. Med. Genet. 1994)
    12. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. (PubMed id 19606494)1, 2, 9 Cesani M.... Biffi A. (Hum. Mutat. 2009)
    13. Molecular basis of different forms of metachromatic leukodystrophy. (PubMed id 1670590)1, 2, 9 Polten A....Gieselmann V. (N. Engl. J. Med. 1991)
    14. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. (PubMed id 1678251)1, 2, 9 Gieselmann V.... von Figura K. (Am. J. Hum. Genet. 1991)
    15. Mutations c.459+1G&gt;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. (Mol. Genet. Metab. 2005)
    16. Crystal structure of a covalent intermediate of endogenous human arylsulfatase A. (PubMed id 12888274)1, 2, 9 Chruszcz M....Lewinski K. (J. Inorg. Biochem. 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. (Am. J. Med. Genet. 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. (Hum. Genet. 1993)
    19. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. (PubMed id 1353340)1, 2, 9 Kappler J.... Gieselmann V. (Ann. Neurol. 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. (Hum. Mol. Genet. 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. (Ann. Neurol. 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. (Biochemistry 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. (Hum. Genet. 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. (Hum. Mutat. 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. (Hum. Mutat. 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. (Hum. Genet. 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. (Am. J. Hum. Genet. 1995)
    28. Molecular genetics of metachromatic leukodystrophy. (PubMed id 7866401)1, 2, 9 Gieselmann V.... Morris C.P. (Hum. Mutat. 1994)
    29. Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients. (PubMed id 7906588)1, 2, 9 Barth M.L.... Harris A. (Hum. Mol. Genet. 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. (Am. J. Hum. Genet. 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. (Psychiatry Clin. Neurosci. 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. (Mol. Vis. 2009)
    33. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    34. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 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. (Genome Res. 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. (Hum. Genet. 2002)
    37. Allelic variation and environmental lead exposure in urban children. (PubMed id 12473917)1, 4 Long J....Nordstrom B. (AACN Clin Issues 2002)
    38. Adult-onset MLD: a gene mutation with isolated polyneuropathy. (PubMed id 11061266)1, 2 Felice K.J.... Kaplan R.F. (Neurology 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. (Hum. Mutat. 1999)
    40. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 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. (Hum. Genet. 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. (Hum. Mutat. Suppl. 1998)
    43. Identification of seven novel mutations associated with metachromatic leukodystrophy. (PubMed id 7581401)1, 2 Barth M.L.... Harris A. (Hum. Mutat. 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. (Cell 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. (Hum. Genet. 1994)
    46. Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. (PubMed id 8101083)1, 2 Hasegawa Y.... Eto Y. (DNA Cell Biol. 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. (Hum. Genet. 1993)
    48. Proteolytic processing of human lysosomal arylsulfatase A. (PubMed id 1352993)1, 2 Fujii T....Makita A. (Biochim. Biophys. Acta 1992)
    49. Structure of the arylsulfatase A gene. (PubMed id 1975241)1, 2 Kreysing J.... Gieselmann V. (Eur. J. Biochem. 1990)
    50. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. (PubMed id 2574462)1, 2 Gieselmann V.... von Figura K. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    51. Cloning and expression of human arylsulfatase A. (PubMed id 2562955)1, 2 Stein C.... von Figura K. (J. Biol. Chem. 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. (Hum. Mol. Genet. 1998)
    53. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. (PubMed id 17845130)1, 9 Capotondo A....Biffi A. (Hum. Gene Ther. 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. (Am. J. Hum. Genet. 1991)
    55. Diagnosis of arylsulfatase A deficiency. (PubMed id 1357970)1, 9 Li Z.G....Chang P.L. (Am. J. Med. Genet. 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. (Hum. Mol. Genet. 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. (Int. J. Mol. Med. 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. (Biochem. J. 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. (Mol. Med. 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. (Hum. Mutat. 2003)
    61. Biochemical characterization of two (C300F, P425T) arylsulfatase A missense mutations. (PubMed id 12503099)2, 9 Marcao A.... Gieselmann V. (Am. J. Med. Genet. A 2003)
    62. Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy. (PubMed id 11777924)1, 9 von BA1low R....von Figura K. (J. Biol. Chem. 2002)
    63. Population frequency of the arylsulphatase A pseudo-deficiency allele. (PubMed id 1674719)1, 9 Nelson P.V....Morris C.P. (Hum. Genet. 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. (Eur. J. Hum. Genet. 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. (Hum. Genet. 1991)
    66. ARSA gene mutations in five Chinese metachromatic leukodystrophy patients. (PubMed id 17560502)1, 9 Wang J....Jiang Y. (Pediatr. Neurol. 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. (Am. J. Med. Genet. 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. (Hum. Mutat. 1999)
    69. Molecular and clinical consequences of novel mutations in the arylsulfatase A gene. (PubMed id 19021637)1, 9 A8ugowska A....Tylki-SzymaA8ska A. (Clin. Genet. 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. (Neurol. Res. 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. (J Clin Neurosci 2006)
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    206. 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. (Acta Neuropathol. 2004)
    207. Metachromatic leukodystrophy: recent research developments. (PubMed id 14572136)9 Gieselmann V. (J. Child Neurol. 2003)
    208. Characterization of inhibitors acting at the synthetase site of Escherichia coli asparagine synthetase B. (PubMed id 11551215)9 Boehlein S.K....Schuster S.M. (Biochemistry 2001)
    209. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland. (PubMed id 10965162)9 Lugowska A....Molzer B. (Eur. Neurol. 2000)
    210. 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. (J Egypt Public Health Assoc 1998)
    211. Ichthyosis: the skin manifestation of multiple sulfatase deficiency. (PubMed id 9336808)9 CastaA+o SuA!rez E....Coll Rosell M.J. (Pediatr Dermatol 1997)
    212. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. (PubMed id 8962139)9 Hess B....Gieselmann V. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    213. 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. (Gene Ther. 1994)
    214. Delayed postanoxic demyelination and arylsulfatase-A pseudodeficiency. (PubMed id 7904733)9 Weinberger L.M....Raghavan S. (Neurology 1994)
    215. 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. (Horm. Metab. Res. 1994)
    216. 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. (J. Biol. Chem. 1991)
    217. Biochemical profiling to predict disease severity in metachromatic leukodystrophy. (PubMed id 19815439)9 Tan M.A....Meikle P.J. (Mol. Genet. Metab. 2010)
    218. Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. (PubMed id 19864504)9 SchrAPder S....Matzner U. (Glycobiology 2010)
    219. Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation. (PubMed id 19306108)9 Bhattacharyya S. and Tobacman J.K. (amp 2009)
    220. 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. (Mol. Ther. 2009)
    221. Acute kidney injury induced by protein-overload nephropathy down-regulates gene expression of hepatic cerebroside sulfotransferase in mice, resulting in reduction of liver and serum sulfatides. (PubMed id 19895791)9 Zhang X....Hara A. (Biochem. Biophys. Res. Commun. 2009)
    222. Reduced expression of sulfatides and galactosylceramide 3'-sulfotransferase in the gastric mucosa of chronic gastritis. (PubMed id 18097285)9 Osawa H....Sugano K. (J. Clin. Gastroenterol. 2008)
    223. 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. (Chembiochem 2008)
    224. Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease. (PubMed id 18360747)9 Matzner U....Gieselmann V. (J. Mol. Med. 2008)
    225. Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy. (PubMed id 17715338)9 Eckhardt M....Gieselmann V. (J. Neurosci. 2007)
    226. Human sulfatases: a structural perspective to catalysis. (PubMed id 17558559)9 Ghosh D. (Cell. Mol. Life Sci. 2007)
    227. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. (PubMed id 17347913)9 Sevin C....Cartier N. (J. Inherit. Metab. Dis. 2007)
    228. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. (PubMed id 17890417)9 GAPrg M....KohlschA1tter A. (J. Child Neurol. 2007)
    229. The effect of whole-body cryostimulation on lysosomal enzyme activity in kayakers during training. (PubMed id 17458576)9 Wozniak A....Rakowski A. (Eur. J. Appl. Physiol. 2007)
    230. 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. (J. Neurosci. 2007)
    231. Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy. (PubMed id 16554462)9 Givogri M.I....Bongarzone E. (J. Neurosci. 2006)
    232. An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD). (PubMed id 19565006)9 Perkins K.J....Morris C.P. (J Mol Genet Med 2005)
    233. Delay of myelin formation in arylsulphatase A-deficient mice. (PubMed id 15733089)9 Yaghootfam A....Eckhardt M. (Eur. J. Neurosci. 2005)
    234. 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. (Pharmacol. Res. 2005)
    235. Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. (PubMed id 15720392)9 Poeppel P....Gieselmann V. (FEBS J. 2005)
    236. Three-dimensional structures of sulfatases. (PubMed id 16399355)9 Ghosh D. (Meth. Enzymol. 2005)
    237. Peripheral neuropathy in metachromatic leucodystrophy. A study of 40 cases from south India. (PubMed id 16291896)9 Bindu P.S....Shankar S.K. (J. Neurol. Neurosurg. Psychiatr. 2005)
    238. 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. (J. Formos. Med. Assoc. 2004)
    239. Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. (PubMed id 15446395)9 Nalini A. and Christopher R. (J. Child Neurol. 2004)
    240. Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? (PubMed id 15060811)9 Battisti C....Federico A. (Neurol. Sci. 2004)
    241. Phytoestrogens are potent inhibitors of estrogen sulfation: implications for breast cancer risk and treatment. (PubMed id 15070945)9 Harris R.M....Kirk C.J. (J. Clin. Endocrinol. Metab. 2004)
    242. Sphingolipidoses in Turkey. (PubMed id 15275696)9 Ozkara H.A. and TopAsu M. (amp 2004)
    243. Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. (PubMed id 15193296)9 Saravanan K....Franken S. (Neurobiol. Dis. 2004)
    244. Rat submandibular gland during the maturation process: changes in enzyme activities, protein and lectin-binding profiles. (PubMed id 15209540)9 PrzybyA8o M....Kremser E. (Physiol Res 2004)
    245. Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G &gt; A mutation and a complete deletion of the ARSA gene. (PubMed id 15211666)9 Eng B....Waye J.S. (Am. J. Med. Genet. A 2004)
    246. 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. (Clin. Biochem. 2004)
    247. 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. (Cell. Mol. Biol. (Noisy-le-grand) 2003)
    248. Crystal structure of saposin B reveals a dimeric shell for lipid binding. (PubMed id 12518053)9 Ahn V.E.... Prive G.G. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    249. 6-(2-adamantan-2-ylidene-hydroxybenzoxazole)-O-sulfamate: a potent non-steroidal irreversible inhibitor of human steroid sulfatase. (PubMed id 14643316)9 Schreiner E.P....Billich A. (amp 2003)
    250. Metachromatic leukodystrophy. Diffusion MR imaging and proton MR spectroscopy. (PubMed id 12846696)9 Sener R.N. (Acta Radiol 2003)
    251. [Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]. (PubMed id 12920791)9 HonzA-k T....Zeman J. (Cas. Lek. Cesk. 2003)
    252. Recognition of arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-phosphotransferase. (PubMed id 12783870)9 Yaghootfam A....Gieselmann V. (J. Biol. Chem. 2003)
    253. Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PubMed id 12510003)9 Ahn V.E....Prive G.G. (Protein Expr. Purif. 2003)
    254. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? (PubMed id 12445909)9 Baumann N....Colsch B. (J. Physiol. Paris 2002)
    255. Characterization of iodothyronine sulfatase activities in human and rat liver and placenta. (PubMed id 11861502)9 Kester M.H....Visser T.J. (Endocrinology 2002)
    256. 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. (Gene Ther. 2002)
    257. The sodium salt of 2-hydroxy-5-nitrobenzylsulfonic acid. (PubMed id 11870284)9 Chruszcz M. and Lewinski K. (Acta Crystallogr C 2002)
    258. Pitfalls in the diagnosis of multiple sulfatase deficiency. (PubMed id 11315200)9 Mancini G.M....de Coo R.F. (Neuropediatrics 2001)
    259. 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. (J Endod 2001)
    260. 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. (Brain Res. 2001)
    261. 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. (Neurotoxicology 2001)
    262. Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. (PubMed id 11499846)9 Schott I....LA1llmann-Rauch R. (Virchows Arch. 2001)
    263. Conserved core structure and active site residues in alkaline phosphatase superfamily enzymes. (PubMed id 11746679)9 Galperin M.Y. and Jedrzejas M.J. (Proteins 2001)
    264. 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. (Bone Marrow Transplant. 2000)
    265. 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. (Braz. J. Med. Biol. Res. 2000)
    266. 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. (Hum. Mol. Genet. 2000)
    267. 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. (Glycobiology 2000)
    268. 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. (Arch. Biochem. Biophys. 2000)
    269. Biochemical effects of vinyl chloride monomer on the liver of occupationally exposed workers. (PubMed id 12197357)9 Saad A.A....Mahdy M.M. (East. Mediterr. Health J. 2000)
    270. Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B). (PubMed id 11045609)9 Whitelegge J.P....Fluharty A.L. (Protein Sci. 2000)
    271. Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies. (PubMed id 10222002)9 BernA! L....LedvinovA! J. (Anal. Biochem. 1999)
    272. Neurophysiology and MRI in late-infantile metachromatic leukodystrophy. (PubMed id 10593679)9 Zafeiriou D.I....Gombakis N.P. (Pediatr. Neurol. 1999)
    273. 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. (Exp. Hematol. 1999)
    274. Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency. (PubMed id 10406672)9 Battisti C....Federico A. (Am. J. Med. Genet. 1999)
    275. Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. (PubMed id 10205163)9 Dierks T....von Figura K. (EMBO J. 1999)
    276. 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. (J. Biol. Chem. 1999)
    277. Metachromatic leukodystrophy: molecular genetics and an animal model. (PubMed id 9728336)9 Gieselmann V....Nagels G. (J. Inherit. Metab. Dis. 1998)
    278. Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine. (PubMed id 9497327)9 Recksiek M....von Figura K. (J. Biol. Chem. 1998)
    279. Residues critical for formylglycine formation and/or catalytic activity of arylsulfatase A. (PubMed id 9760228)9 Knaust A....von Figura K. (Biochemistry 1998)
    280. 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. (Protein Sci. 1998)
    281. Arylsulfatase A from human placenta possesses only high mannose-type glycans. (PubMed id 9202426)9 Laidler P. and Litynska A. (amp 1997)
    282. Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. (PubMed id 9402957)9 Ott R....Chang P.L. (Hum. Genet. 1997)
    283. 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. (Am. J. Obstet. Gynecol. 1997)
    284. Permeability of alginate microcapsules to secretory recombinant gene products. (PubMed id 18629920)9 Awrey D.E....Chang P.L. (Biotechnol. Bioeng. 1996)
    285. Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A. (PubMed id 8730212)9 Park D.S....Manowitz P. (Alcohol. Clin. Exp. Res. 1996)
    286. 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. (J. Inherit. Metab. Dis. 1996)
    287. 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. (Am. J. Hum. Genet. 1996)
    288. 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. (J. Biol. Chem. 1996)
    289. A novel arylsulfatase A protein variant and genotype in two patients with major depression. (PubMed id 8897113)9 Ricketts M.H....Manowitz P. (J Affect Disord 1996)
    290. 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. (Gene Ther. 1995)
    291. [Activity of aryl sulfatase A enzyme in patients with schizophrenic disorders]. (PubMed id 8584809)9 Alvarez Leal M....ZA_A+iga Charles M.A. ( organo del Hospital de Enfermedades de la NutriciĆ³n 1995)
    292. 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. (Am. J. Med. Sci. 1995)
    293. A method for rapid detection of arylsulfatase A pseudodeficiency mutations. (PubMed id 7558057)9 Ricketts M.H....Manowitz P. (Hum. Hered. 1995)
    294. Genetics of metachromatic leukodystrophy. (PubMed id 8542433)9 Gieselmann V....von Figura K. (Gene Ther. 1994)
    295. 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. (J. Biochem. 1994)
    296. Hepatocyte growth factor elevates the activity levels of glycolipid sulfotransferases in renal cell carcinoma cells. (PubMed id 8307006)9 Kobayashi T....Makita A. (Eur. J. Biochem. 1994)
    297. A study on enzyme activities of some sphingolipidoses. (PubMed id 7974812)9 Ozkara H.A....Renda Y. (Turk. J. Pediatr. 1994)
    298. [Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy]. (PubMed id 7908863)9 Ohshima T....Sakuragawa N. (Rinsho Shinkeigaku 1994)
    299. Processing of human acid sphingomyelinase in normal and I-cell fibroblasts. (PubMed id 8106525)9 Hurwitz R....Sandhoff K. (J. Biol. Chem. 1994)
    300. 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. (J. Child Neurol. 1994)
    301. Expression of acidic glycosphingolipids and arylsulphatase A activity in human pathological endometrium. (PubMed id 7913898)9 Vitaioli L....Indraccolo S.R. (Eur. J. Obstet. Gynecol. Reprod. Biol. 1994)
    302. Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene. (PubMed id 7909249)9 Harvey J.S....Morris C.P. (Hum. Mol. Genet. 1994)
    303. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. (PubMed id 7901143)9 Berger J....Bernheimer H. (Hum. Genet. 1993)
    304. Epidermal growth factor elevates the activity levels of glycolipid sulfotransferases in renal-cell-carcinoma cells. (PubMed id 8104164)9 Kobayashi T....Makita A. (Int. J. Cancer 1993)
    305. 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. (Cancer Res. 1993)
    306. 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. (Am. J. Hum. Genet. 1993)
    307. Biochemical and histochemical analysis of the enzyme arylsulfatase in human lesions of endodontic origin. (PubMed id 8245755)9 Aqrabawi J....Franzblau C. (J Endod 1993)
    308. The effect of carbohydrate removal on stability and activity of saposin B. (PubMed id 8099782)9 Hiraiwa M....Kishimoto Y. (Arch. Biochem. Biophys. 1993)
    309. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. (PubMed id 8455580)9 Eto Y....Tokoro T. (Mol. Cell. Biochem. 1993)
    310. Clinical application of intrauterine bone marrow transplantation for treatment of genetic diseases--feasibility studies. (PubMed id 1504665)9 Slavin S....Lewin A. (Bone Marrow Transplant. 1992)
    311. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. (PubMed id 1572648)9 Grompe M....Ballabio A. (Genomics 1992)
    312. The structural basis for the electrophoretic isoforms of normal and variant human platelet arylsulphatase A. (PubMed id 1359879)9 Poretz R.D....Manowitz P. (Biochem. J. 1992)
    313. Characterization of three arylsulfatases in semen: seminolipid sulfohydrolase activity is present in seminal plasma. (PubMed id 1358201)9 Gadella B.M....Lopes-Cardozo M. (Biochim. Biophys. Acta 1992)
    314. 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. (Am. J. Hum. Genet. 1992)
    315. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. (PubMed id 1348358)9 Rommerskirch W. and von Figura K. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    316. 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. (Hum. Genet. 1992)
    317. 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. (Eur. J. Cell Biol. 1992)
    318. 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. (J. Biol. Chem. 1992)
    319. Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. (PubMed id 1687776)9 Baumann N....Turpin J.C. (Dev. Neurosci. 1991)
    320. [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. (Encephale 1991)
    321. 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. (Biochem. Biophys. Res. Commun. 1991)
    322. Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. (PubMed id 1776456)9 Hwu W.L. and Wang T.R. (Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1991)
    323. Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer. (PubMed id 1684103)9 Rommerskirch W....Gieselmann V. (Biochem. J. 1991)
    324. Glycosphingolipid specificity of the human sulfatide activator protein. (PubMed id 1889421)9 Vogel A....Sandhoff K. (Eur. J. Biochem. 1991)
    325. Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. (PubMed id 1687777)9 Wenger D.A. and Louie E. (Dev. Neurosci. 1991)

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    Entrez Gene: 410 HGNC: 713 AceView: ARSA Ensembl:ENSG00000100299 euGenes: HUgn410
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     Antibodies for ARSA (Arylsulfatase A/ARSA)   Browse Cell Culture Products  
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     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Recombinant/Natural Proteins for ARSA (Arylsulfatase A/ARSA)   Browse Stem Cell Products  
     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 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  

     
     
     Block miRNA regulation of human, mouse, rat ARSA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing ARSA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARSA Predesigned siRNA for gene silencing in human, mouse, rat ARSA
     QuantiFast Probe-based Assays in human, mouse, rat ARSA QuantiTect SYBR Green Assays in human, mouse, rat ARSA
     Custom PCR Arrays for ARSA Search Chromatin IP Primers for ARSA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARSA  Search GeneGlobe Interaction Network for ARSA
     Regulatory tfbs in ARSA promoter
     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 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
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     Search Tocris compounds for ARSA
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     Search Sino Biological for antibodies, proteins & pathways
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     See all of Abcam's Antibodies, Kits and Proteins for ARSA
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     Recombinant Protein for ARSA
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     Browse ESI BIO Cell Lines and PureStem Progenitors for ARSA
     Gene Synthesis
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     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
     Browse compounds at ApexBio
     Search Addgene for plasmids for ARSA
      Search eBioscience for proteins for ARSA
      Search eBioscience for elisas for ARSA
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for ARSA
     antibodies-online antibodies for ARSA (71 products)
     antibodies-online kits for ARSA (23 products)
     antibodies-online peptides for ARSA
     antibodies-online proteins for ARSA (10 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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