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410 ARSA

410

ARSA

arylsulfatase A

protein-coding

Homo sapiens

基因描述

Type Description
Definition arylsulfatase A

研究结论

Date Results Publications
2020-06-27 10:07:00 The expression of serum DRAM1 messenger RNA (mRNA), ARSA mRNA, hsa-miR-2053 and lncRNA-RP1-86D1.3 were positive in 78.3%, 90%, 85%, and 83.3% of MPM patients, respectively. 30362153
2020-05-16 12:31:00 Plasma ARSA protein levels were changed in Parkinson's disease patients. ARSA inhibited the in vitro fibrillation of alpha-synuclein in a dose-dependent manner. Ectopic expression of ARSA reversed the alpha-synuclein phenotypes in both cell and fly models of synucleinopathy, the effects correlating with the extent of the physical interaction between these molecules. ARSA is a molecular chaperone for alpha-synuclein. 31312839
2020-04-04 11:36:00 Three novel arylsulfatase A (ARSA) gene mutations p.Asp281Asn, p.Asp283Asn and p.Ala344Asp were described from Sri Lankan patients with metachromatic leukodystrophy (MLD). 31694723
2020-02-08 11:05:00 Due to their safety profile and higher therapeutic potential the engineered hARSA variants might represent major advances for future enzyme-based therapies of metachromatic leukodystrophy and stimulate analogous approaches for other enzyme therapeutics 30657900
2020-01-18 12:15:00 The proband with late infantile metachromatic leukodystrophy was found to harbor compound heterozygous variants of the ARSA gene [c.467G>A (p.Gly156Asp) and c.960G>A (p.Trp320*)], neither of which was reported previously 31922587

名称对应

Type IDs
Synonymous ASA, MLD
Gene
UniProtKB-ID: ARSA_HUMAN, B4DVI5_HUMAN, A0A0C4DFZ2_HUMAN
UniprotKB: P15289, B4DVI5, A0A0C4DFZ2
UniParc: UPI00017A7F9B, UPI000150BB13, UPI000013C6C4, UPI000011DDBC
EMBL: AK098659, X52150, AY271820, BC014210, AK315011, AB448736, U62317, AK301098, CR456383, X52151
Ensembl: ENSG00000100299
KO: hsa:410
Nucleutide sequences
EMBL-CDS: BAH11167.1, CAG30269.1, BAG37503.1, CAA36399.1, AAP03431.1, CAA36398.1, AAH14210.2, AAB03341.1, BAG62697.1
Ensembl_TRS: ENST00000453344, ENST00000216124, ENST00000395619, ENST00000395621, ENST00000356098
Protein sequencees
Ensembl_PRO: ENSP00000412542, ENSP00000378983, ENSP00000348406, ENSP00000216124, ENSP00000378981
RefSeq: NP_001349711.1, XP_016884289.1, NP_001078896.2, XP_011528993.1, NP_001078894.2, NP_001078895.2, NP_000478.3, NP_001078897.1, XP_024308009.1
Others
UniRef100: UniRef100_B4DVI5, UniRef100_P15289
UniRef90: UniRef90_A0A5F8A6A6, UniRef90_P15289
UniRef50: UniRef50_P15289, UniRef50_H2ZXY9
UniGene: Hs.88251, Hs.731715
CCDS: CCDS46736.1

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