Recombinant Human Arylsulfatase A (ARSA)

1. A novel homozygous missense mutation c.699C>A (p.His231Gln) in exon 4 of ARSA gene was identified in the three metachromatic leukodystrophy patients inherited from their heterozygous parents. PMID: 30083785
2. The novel p.L113P mutation in a Pakistani family with late infantile MLD has a pathogenic and destructive effect on the protein structure and function of ARSA. PMID: 28799099
3. siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previouslyfa PMID: 27374302
4. First report of arylsulfatase A pseudodeficiency (ASA-PD) allele and haplotype frequencies in a North African population, reveals relatively high prevalence of the ASA-PD allele in the Tunisian population with an intermediate genetic structure between Africans, Middle-eastern and Europeans most probably linked to the particular geographic location of Tunisia and the several population incursions throughout its history PMID: 26577183
5. an extensive review of all the ARSA-causative variants published in the literature to date, accounting for a total of 200 ARSA allele types (review) PMID: 26462614
6. We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings. PMID: 24989669
7. Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy. PMID: 25297594
8. Sixteen novel mutations that cause metachromatic leukodystrophy have been identified in the arylsulfatase A gene. PMID: 24001781
9. Arylsulphatase A activity in human endometrial polyps inversely correlates with aging PMID: 23689179
10. Studied brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor. PMID: 23192358
11. HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1. PMID: 23247813
12. The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction. PMID: 23209833
13. This is the first report that human adipocytes express functional DAR and ARSA, suggesting a regulatory role for peripheral DA in adipose functions. PMID: 21966540
14. The purpose was to estimate the birth prevalence of Metachromatic leukodystrophy in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to compare this estimate with epidemiological data. PMID: 21695197
15. The presence of two most common mutations associated with Arylsulfatase A pseudodeficiency was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method. PMID: 21648305
16. cationization of ASA and an increase of the mannose 6-phosphate content of the enzyme may promote blood-to-brain transfer of ASA, thus leading to an improved therapeutic efficacy of enzyme replacement therapy behind the BBB. PMID: 21454621
17. ARSA mutations in the Indian population were characterized. 4 new variant & 5 pseudodeficiency alleles were found. Protein modeling showed loss of interactions leading to conformation change. PMID: 21167507
18. case report of missense mutations p.G99D and p.T409I associated with adult-type metachromatic leukodystrophy PMID: 21265945
19. contribution of mutations to enzyme activity reduction and metachromatic leukodystrophy severity PMID: 11941485
20. analysis of arylsulfatase A mutations demonstrates a lack of association with Alzheimer-type dementia or Down syndrome PMID: 12459318
21. the reduced lysosomal half-life of some mutated forms of ARSA is related to deficient octamerization PMID: 12788103
22. Structures of human arylsulfatase A crystals soaked in solutions containing 4-methylumbelliferyl phosphate and O-phospho-DL-tyrosine have been determined at 2.7- and 3.2-A resolution, respectively. Phosphate and calcium binding sites are identified. PMID: 12888274
23. Metachromatic leukodystrophy Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved residues in the arylsulphatase A (ASA) sulphatase and carboxyterminal domains, with 89% loss of enzymatic activity. PMID: 15026521
24. missense mutation in which actual pathogenic effect was splicing-related by disrupting a potential exonic splicing enhancer (ESE) and causing a complete exon 7 skipping PMID: 15375602
25. Genetic analysis revealed homozygosity for a novel mutation in exon 3 of ARSA (F219V). PMID: 15710861
26. Enzyme replacement therapy, using ARSA, improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. PMID: 15772092
27. Homozygote for mutation of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy PMID: 16110195
28. Adeno-associated virus serotype 5-mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for metachromatic leukodystrophy patients, especially for those with rapidly progressive form of the disease. PMID: 16311251
29. Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy PMID: 16678723
30. decidual levels of arylsulphatase A showed very low values at 41 weeks, which reduced to a half at 42 weeks of gestation PMID: 17329011
31. Six DNA variants of the arylsulfatase A gene were identified: two novel frameshift mutations (c.179_180dupCA and c.1338dupC), one known nonsense mutation (p.W318X), and three known missense mutations (p.R84Q, p.G99V, and p.R288C) PMID: 17560502
32. Induction of tolerance to human ARSA in a mouse model of metachromatic leukodystrophy is reported. PMID: 17660863
33. Safety of ARSA overexpression for gene therapy of metachromatic leukodystrophy was evaluated. PMID: 17845130
34. R95Q, G144R, H393P, & C521Y cause large structural changes, & are associated with the severe phenotype of mucopolysaccharidosis VI. G137V & Y210C are thought to cause small structural changes in a limited region resulting in the attenuated phenotype. PMID: 18248830
35. 11 novel ARSA alleles in Italian patients with metachromatic leukodystrophy are described. PMID: 18693274
36. DNA sequencing revealed two novel disease-causing missense mutations in the arylsulfatase gene in patients with metachromatic leukodystrophy PMID: 18768108
37. the novel Metachromatic leukodystrophy- causing mutations in the exons 2, 5 and even in 8 of the ARSA gene described here can be classified as severe type 0, leading in homozygosity to the late infantile form Metachromatic leukodystrophy PMID: 19021637
38. We report on two patients with mental retardation, dysmorphic features and low catalytic activity of arylsulfatase A which is because of were explained, in each patients, by a deletion of 22q13 and, thereby, of one allele of ARSA. PMID: 19054018
39. Saposin B(Sap B) is not a limiting factor of the coupled Sap B-ASA reaction in mouse kidney cells even if sulfatide has accumulated to unphysiologically high levels PMID: 19224915
40. characterized eight newly identified ARSA mutations, through lentiviral vector-based expression studies on cell lines and ARSA defective murine fibroblasts. The residual activity associated with the new mutant allele correlates well with the phenotype PMID: 19606494
41. Multiple alleles in a subject unaffected with metachromatic leucodystrophy PMID: 11333871

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HGNC: 713

OMIM: 250100

KEGG: hsa:410

STRING: 9606.ENSP00000216124

UniGene: Hs.731715