Type | Description |
---|---|
Definition | arylsulfatase A |
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 |
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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