ARSA Gene

Aliases
for ARSA gene

Previous GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953

Summaries
for ARSA gene

Genomic Views
for ARSA gene

RefSeq DNA sequence:

NC_000022.10  NC_018933.1  NT_011526.7  

SwitchGear Promoter luciferase reporter plasmid: ARSA promoter sequence

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

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


GeneLoc information about chromosome 22         GeneLoc Exon Structure

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

Proteins
for ARSA gene

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)    

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

Post-translational modifications:

	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: ARSA OriGene Protein Over-expression Lysate (see all 7): 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
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ARSA

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

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for ARSA (Arylsulfatase A/ARSA)
	OriGene Antibodies: ARSA OriGene Custom Antibody Services for ARSA
	GenScript Custom Superior Antibodies Services for ARSA
	Novus Biologicals ARSA Antibodies
	Search for Antibodies for ARSA at Abcam
	Uscn Antibodies for ARSA
	ThermoFisher Antibodies for ARSA

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ARSA
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ARSA

Protein Domains /
Families
for ARSA gene

ProtoNet protein and cluster: P15289

Function
for ARSA gene

miRNA Products:		OriGene 3'-UTR Clone (see all 5): ARSA Browse MicroRNA Expression Plasmids
		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 Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSA (see all 7) OriGene shRNA RFP: ARSA OriGene siRNA: ARSA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSA

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for ARSA

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 6) 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

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ARSA
		Search LifeMap BioReagents cell lines for ARSA

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

(inferred from 1 allele) (MGI details for Arsa)

Pathways & Interactions
for ARSA gene

	Super-pathway	contained gene-specific pathways
1	Sphingolipid metabolism	Sphingolipid metabolism 1.00 Sphingolipid metabolism 0.54 Glycosphingolipid metabolism 0.54
2	PTM: gamma carboxylation, hypusine formation and arylsulfatase activation	PTM: gamma carboxylation, hypusine formation and arylsulfatase activation 1.00 The activation of arylsulfatases 0.46
3	Metabolism	Metabolism 1.00 Metabolism of lipids and lipoproteins 0.34
4	Asparagine N-linked glycosylation	Post-translational protein modification 0.44 Metabolism of proteins 0.15
5	Active ARSA translocates to the lysosome	Active ARSA translocates to the lysosome 1.00

5/9        Reactome Pathways for ARSA

	Sphingolipid metabolism
	Active ARSA translocates to the lysosome
	Glycosphingolipid metabolism
	Metabolism
	PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

2         Kegg Pathways  (Kegg details for ARSA)

	Sphingolipid metabolism
	Lysosome

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

Drugs & Compounds
for ARSA gene

Transcripts
for ARSA gene

Expression
for ARSA gene

ARSA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCCTGGCG

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARSA Browse OriGene validated miRNA SYBR primer pairs
		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
for ARSA gene

Paralogs
for ARSA gene

Paralogs for ARSA gene

ARSF²  ARSJ²  ARSI²  ARSG²  ARSH²  STS²  ARSB²  GALNS²  

ARSE²  ARSD²  

3 SIMAP similar genes for ARSA using alignment to 1 protein entry:     ARSA_HUMAN:

DKFZp686G12235    GALNS    ARSG

ARSA for paralogs           About GeneDecksing

Genomic Variants
for ARSA gene

10/291 NCBI SNPs in ARSA are shown (see all 291)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs61514291,2	C,F,H,	pathogenic	51063477(-)	ACGTAA/GTAACA	5	--	ut31		32		NS EA NA	3544
rs743154821,2	C	pathogenic	51063641(-)	CCCTGC/TAGATC	10	Q *	stg1		0	--	--	--	--
rs289408931,2	C	pathogenic	51063820(-)	GCCCCC/TGCTGC	10	P L	mis1 ese3		1		NA	3842
rs743154851,2	C	pathogenic	51063824(-)	ATGAGA/CCCCCG	10	T P	mis1		0	--	--	--	--
rs743154811,2	C	pathogenic	51063871(-)	TACCAC/TTGCAG	10	T I	mis1		0	--	--	--	--
rs289408951,2	C	pathogenic	51063874(-)	TGATAC/TCACTG	10	T I	mis1 ese3		1		NA	2
rs7436161,2	C,F,O,A,H,	pathogenic	51064039(+)	TTCCAG/CTCCGC	10	/T /S	mis1 ese3		30		MN NS EA NA CSA WA EU	8237
rs743154801,2	C	pathogenic	51064043(-)	CTGTGC/TGGACT	10	R W	mis1		0	--	--	--	--
rs743154791,2	C	pathogenic	51064067(-)	CAGACA/GAGGTC	10	K E	mis1		0	--	--	--	--
rs743154781,2	C	pathogenic	51064081(-)	CTACCA/C/TGTCCT	15	Q P L	mis1		1		NA	4486

HapMap Linkage Disequilibrium report for ARSA (51063446 - 51066607 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ARSA
     1 CNV: 5192
Human Gene Mutation Database (HGMD): ARSA

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARSA

DNA2.0 Custom Variant and Variant Library Synthesis for ARSA

Disorders / Diseases
for ARSA gene

20/54 diseases for ARSA

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

Publications
for ARSA gene

PubMed articles for ARSA gene integrated from 9 sources (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. Molecular and structural analysis of metachromatic le ukodystrophy patients in Indian population. (PubMed id 21167507)¹ Shukla P....Kabra M. (2011)
83. Dopamine receptors in human adipocytes: expression an d functions. (PubMed id 21966540)¹ Borcherding D.C....Ben-Jonathan N. (2011)
84. Transport of arylsulfatase A across the blood-brain b arrier in vitro. (PubMed id 21454621)¹ Matthes F....Matzner U. (2011)
85. Population carrier rates of pathogenic ARSA gene muta tions: is metachromatic leukodystrophy underdiagnosed? (PubMed id 21695197)¹ A8ugowska A....PA8oski R. (2011)
86. 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)
87. Molecular bases of metachromatic leukodystrophy in Polish patients. (PubMed id 20339381)² Lugowska A.... Tylki-Szymanska A. (2010)
88. Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy. (PubMed id 19054018)¹ Bisgaard A.M....Christensen E. (2009)
89. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)² Chen R.... Zou H. (2009)
90. 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)
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96. 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)
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98. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)¹ Oh J.H....Kim N.S. (2005)
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101. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. (PubMed id 15146462)² Cosma M.P.... Ballabio A. (2004)
102. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)¹ Brandenberger R.... Stanton L.W. (2004)
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105. High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy. (PubMed id 12081727)¹ Lugowska A....Molzer B. (2002)
106. 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)
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148. 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)
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151. Evaluation of leukocyte arylsulfatase-A activity in patients with breast cancer and benign breast disease. (PubMed id 11295292)⁹ Turkmen S....Eryavuz Y. (2001)
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155. Transport of newly synthesized arylsulfatase A to the lysosome via transferrin receptor-positive compartments. (PubMed id 7902710)⁹ Diesner F....Braulke T. (1993)
156. 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)
157. Reduced activity of arylsulfatase A and predisposition to neurological disorders: analysis of 140 pediatric patients. (PubMed id 1683156)⁹ Sangiorgi S....Mochi M. (1991)
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240. 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)
241. Metachromatic leukodystrophy. Diffusion MR imaging an d proton MR spectroscopy. (PubMed id 12846696)⁹ Sener R.N. (2003)
242. [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)
243. 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)
244. Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PubMed id 12510003)⁹ Ahn V.E....Prive G.G. (2003)
245. Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? (PubMed id 12445909)⁹ Baumann N....Colsch B. (2002)
246. Characterization of iodothyronine sulfatase activities in human and rat liver and placenta. (PubMed id 11861502)⁹ Kester M.H....Visser T.J. (2002)
247. 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)
248. The sodium salt of 2-hydroxy-5-nitrobenzylsulfonic acid. (PubMed id 11870284)⁹ Chruszcz M. and Lewinski K. (2002)
249. Pitfalls in the diagnosis of multiple sulfatase deficiency. (PubMed id 11315200)⁹ Mancini G.M....de Coo R.F. (2001)
250. 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)
251. 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)
252. 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)
253. Sulfatide storage in visceral organs of arylsulfatase A-deficient mice. (PubMed id 11499846)⁹ Schott I....LA1llmann-Rauch R. (2001)
254. Conserved core structure and active site residues in alkaline phosphatase superfamily enzymes. (PubMed id 11746679)⁹ Galperin M.Y. and Jedrzejas M.J. (2001)
255. 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)
256. 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)
257. 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)
258. 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)
259. 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)
260. Biochemical effects of vinyl chloride monomer on the liver of occupationally exposed workers. (PubMed id 12197357)⁹ Saad A.A....Mahdy M.M. (2000)
261. Methionine oxidation within the cerebroside-sulfate activator protein (CSAct or Saposin B). (PubMed id 11045609)⁹ Whitelegge J.P....Fluharty A.L. (2000)
262. 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)
263. Neurophysiology and MRI in late-infantile metachromat ic leukodystrophy. (PubMed id 10593679)⁹ Zafeiriou D.I....Gombakis N.P. (1999)
264. 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)
265. Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency. (PubMed id 10406672)⁹ Battisti C....Federico A. (1999)
266. Sequence determinants directing conversion of cysteine to formylglycine in eukaryotic sulfatases. (PubMed id 10205163)⁹ Dierks T....von Figura K. (1999)
267. 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)
268. Metachromatic leukodystrophy: molecular genetics and an animal model. (PubMed id 9728336)⁹ Gieselmann V....Nagels G. (1998)
269. Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine. (PubMed id 9497327)⁹ Recksiek M....von Figura K. (1998)
270. Residues critical for formylglycine formation and/or catalytic activity of arylsulfatase A. (PubMed id 9760228)⁹ Knaust A....von Figura K. (1998)
271. 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)
272. Arylsulfatase A from human placenta possesses only high mannose-type glycans. (PubMed id 9202426)⁹ Laidler P. and Litynska A. (1997)
273. Evolutionary origins of two tightly linked mutations in arylsulfatase-A pseudodeficiency. (PubMed id 9402957)⁹ Ott R....Chang P.L. (1997)
274. 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)
275. Permeability of alginate microcapsules to secretory recombinant gene products. (PubMed id 18629920)⁹ Awrey D.E....Chang P.L. (1996)
276. Association of alcoholism with the N-glycosylation polymorphism of pseudodeficient human arylsulfatase A. (PubMed id 8730212)⁹ Park D.S....Manowitz P. (1996)
277. 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)
278. 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)
279. 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)
280. A novel arylsulfatase A protein variant and genotype in two patients with major depression. (PubMed id 8897113)⁹ Ricketts M.H....Manowitz P. (1996)
281. 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)
282. [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)
283. 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)
284. A method for rapid detection of arylsulfatase A pseud odeficiency mutations. (PubMed id 7558057)⁹ Ricketts M.H....Manowitz P. (1995)
285. Genetics of metachromatic leukodystrophy. (PubMed id 8542433)⁹ Gieselmann V....von Figura K. (1994)
286. 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)
287. Hepatocyte growth factor elevates the activity levels of glycolipid sulfotransferases in renal cell carcinoma cells. (PubMed id 8307006)⁹ Kobayashi T....Makita A. (1994)
288. A study on enzyme activities of some sphingolipidoses. (PubMed id 7974812)⁹ Ozkara H.A....Renda Y. (1994)
289. [Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy] (PubMed id 7908863)⁹ Ohshima T....Sakuragawa N. (1994)
290. Processing of human acid sphingomyelinase in normal and I-cell fibroblasts. (PubMed id 8106525)⁹ Hurwitz R....Sandhoff K. (1994)
291. 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)
292. Expression of acidic glycosphingolipids and arylsulphatase A activity in human pathological endometrium. (PubMed id 7913898)⁹ Vitaioli L....Indraccolo S.R. (1994)
293. Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene. (PubMed id 7909249)⁹ Harvey J.S....Morris C.P. (1994)
294. Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations. (PubMed id 7901143)⁹ Berger J....Bernheimer H. (1993)
295. Epidermal growth factor elevates the activity levels of glycolipid sulfotransferases in renal-cell-carcinoma cells. (PubMed id 8104164)⁹ Kobayashi T....Makita A. (1993)
296. 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)
297. 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)
298. Biochemical and histochemical analysis of the enzyme arylsulfatase in human lesions of endodontic origin. (PubMed id 8245755)⁹ Aqrabawi J....Franzblau C. (1993)
299. The effect of carbohydrate removal on stability and activity of saposin B. (PubMed id 8099782)⁹ Hiraiwa M....Kishimoto Y. (1993)
300. Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease. (PubMed id 8455580)⁹ Eto Y....Tokoro T. (1993)
301. Clinical application of intrauterine bone marrow transplantation for treatment of genetic diseases--feasibility studies. (PubMed id 1504665)⁹ Slavin S....Lewin A. (1992)
302. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. (PubMed id 1572648)⁹ Grompe M....Ballabio A. (1992)
303. 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)
304. 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)
305. 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)
306. Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. (PubMed id 1348358)⁹ Rommerskirch W. and von Figura K. (1992)
307. 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)
308. 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)
309. 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)
310. Adult forms of metachromatic leukodystrophy: clinical and biochemical approach. (PubMed id 1687776)⁹ Baumann N....Turpin J.C. (1991)
311. [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)
312. 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)
313. Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome. (PubMed id 1776456)⁹ Hwu W.L. and Wang T.R. (1991)
314. 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)
315. Glycosphingolipid specificity of the human sulfatide activator protein. (PubMed id 1889421)⁹ Vogel A....Sandhoff K. (1991)
316. Pseudodeficiencies of arylsulfatase A and galactocerebrosidase activities. (PubMed id 1687777)⁹ Wenger D.A. and Louie E. (1991)
317. Multiple sulfatase deficiency with early severe retinal degeneration. (PubMed id 1875023)⁹ Harbord M....Clarke J.T. (1991)
318. 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)
319. Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full- length cDNA, and regions of amino acid identity with arylsulfatases A and C. (PubMed id 1968043)⁹ Schuchman E.H.... Desnick R.J. (1990)
320. Hunter disease (mucopolysaccharidosis type II) in a k aryotypically normal girl. (PubMed id 2112988)⁹ Clarke J.T....Skomorowski M.A. (1990)
321. Isomer specific kinetics of dopamine beta-hydroxylase and arylsulfatase towards catecholamine sulfates. (PubMed id 2317215)⁹ Strobel G....Weicker H. (1990)
322. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. (PubMed id 1689485)⁹ Zhang X.L....Wenger D.A. (1990)
323. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (PubMed id 2302219)⁹ Rafi M.A.... Wenger D.A. (1990)
324. Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. (PubMed id 2303452)⁹ Peters C.... von Figura K. (1990)
325. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. (PubMed id 2320574)⁹ Kretz K.A....O'Brien J.S. (1990)

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