| 释义 |
- Pathology
- Biochemistry Enzyme regulation
- References
- Further reading
- External links
{{Infobox_gene}}Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.[1][2]PathologyA deficiency is associated with metachromatic leukodystrophy, an autosomal recessive disease.[3] BiochemistryEnzyme regulationArylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine.[4] References 1. ^{{cite journal |vauthors=Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K | title = Cloning and expression of human arylsulfatase A | journal = J. Biol. Chem. | volume = 264 | issue = 2 | pages = 1252–9 |date=January 1989 | pmid = 2562955 | doi = | url = }}
2. ^{{cite journal |vauthors=Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch R, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V | title = Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy | journal = Hum. Mol. Genet. | volume = 14 | issue = 9 | pages = 1139–52 |date=May 2005 | pmid = 15772092 | doi = 10.1093/hmg/ddi126 }}
3. ^{{cite journal |vauthors=Sevin C, Aubourg P, Cartier N | title = Enzyme, cell and gene-based therapies for metachromatic leukodystrophy | journal = J. Inherit. Metab. Dis. | volume = 30 | issue = 2 | pages = 175–83 |date=April 2007 | pmid = 17347913 | doi = 10.1007/s10545-007-0540-z }}
4. ^{{cite web|work=Sino Biological|url=http://www.sinobiological.com/Arylsulfatase-A-a-2849.html|accessdate=12 September 2014|title=Arylsulfatase A / ARSA}}
Further reading{{refbegin | 2}}- {{cite journal | author=Narahara K |title=Terminal 22q deletion associated with a partial deficiency of arylsulphatase A |journal=J. Med. Genet. |volume=29 |issue= 6 |pages= 432–3 |year= 1992 |pmid= 1352356 |doi=10.1136/jmg.29.6.432 | pmc=1016000 |name-list-format=vanc| author2=Takahashi Y | author3=Murakami M | display-authors=3 | last4=Tsuji | first4=K | last5=Yokoyama | first5=Y | last6=Murakami | first6=R | last7=Ninomiya | first7=S | last8=Seino | first8=Y }}
- {{cite journal | author=Gieselmann V |title=Molecular genetics of metachromatic leukodystrophy |journal=Hum. Mutat. |volume=4 |issue= 4 |pages= 233–42 |year= 1995 |pmid= 7866401 |doi= 10.1002/humu.1380040402 |name-list-format=vanc| author2=Zlotogora J | author3=Harris A | display-authors=3 | last4=Wenger | first4=David A. | last5=Morris | first5=C. Phillip }}
- {{cite journal |vauthors=DeLuca C, Brown JA, Shows TB |title=Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=76 |issue= 4 |pages= 1957–61 |year= 1979 |pmid= 36611 |doi=10.1073/pnas.76.4.1957 | pmc=383512 }}
- {{cite journal | author=Fujii T |title=Proteolytic processing of human lysosomal arylsulfatase A |journal=Biochim. Biophys. Acta |volume=1122 |issue= 1 |pages= 93–8 |year= 1992 |pmid= 1352993 |doi=10.1016/0167-4838(92)90132-W |name-list-format=vanc| author2=Kobayashi T | author3=Honke K | display-authors=3 | last4=Gasa | first4=S | last5=Ishikawa | first5=M | last6=Shimizu | first6=T | last7=Makita | first7=A }}
- {{cite journal |vauthors=Kappler J, von Figura K, Gieselmann V |title=Late-onset metachromatic leukodystrophy: molecular pathology in two siblings |journal=Ann. Neurol. |volume=31 |issue= 3 |pages= 256–61 |year= 1992 |pmid= 1353340 |doi= 10.1002/ana.410310305 }}
- {{cite journal |vauthors=Li ZG, Waye JS, Chang PL |title=Diagnosis of arylsulfatase A deficiency |journal=Am. J. Med. Genet. |volume=43 |issue= 6 |pages= 976–82 |year= 1992 |pmid= 1357970 |doi= 10.1002/ajmg.1320430614 }}
- {{cite journal | author=Polten A |title=Molecular basis of different forms of metachromatic leukodystrophy |journal=N. Engl. J. Med. |volume=324 |issue= 1 |pages= 18–22 |year= 1991 |pmid= 1670590 |doi=10.1056/NEJM199101033240104 |name-list-format=vanc| author2=Fluharty AL | author3=Fluharty CB | display-authors=3 | last4=Kappler | first4=Joachim | last5=Von Figura | first5=Kurt | last6=Gieselmann | first6=Volkmar }}
- {{cite journal | author=Kondo R |title=Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy |journal=Am. J. Hum. Genet. |volume=48 |issue= 5 |pages= 971–8 |year= 1991 |pmid= 1673291 |doi= | pmc=1683039 |name-list-format=vanc| author2=Wakamatsu N | author3=Yoshino H | display-authors=3 | last4=Fukuhara | first4=N | last5=Miyatake | first5=T | last6=Tsuji | first6=S }}
- {{cite journal |vauthors=Nelson PV, Carey WF, Morris CP |title=Population frequency of the arylsulphatase A pseudo-deficiency allele |journal=Hum. Genet. |volume=87 |issue= 1 |pages= 87–8 |year= 1991 |pmid= 1674719 |doi=10.1007/BF01213099 }}
- {{cite journal |vauthors=Bohne W, von Figura K, Gieselmann V |title=An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy |journal=Hum. Genet. |volume=87 |issue= 2 |pages= 155–8 |year= 1991 |pmid= 1676699 |doi=10.1007/BF00204172 }}
- {{cite journal |vauthors=Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K |title=Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy |journal=Am. J. Hum. Genet. |volume=49 |issue= 2 |pages= 407–13 |year= 1991 |pmid= 1678251 |doi= | pmc=1683316 }}
- {{cite journal | author=Fluharty AL |title=Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient |journal=Am. J. Hum. Genet. |volume=49 |issue= 6 |pages= 1340–50 |year= 1992 |pmid= 1684088 |doi= | pmc=1686463 |name-list-format=vanc| author2=Fluharty CB | author3=Bohne W | display-authors=3 | last4=Von Figura | first4=K | last5=Gieselmann | first5=V }}
- {{cite journal |vauthors=Kreysing J, von Figura K, Gieselmann V |title=Structure of the arylsulfatase A gene |journal=Eur. J. Biochem. |volume=191 |issue= 3 |pages= 627–31 |year= 1990 |pmid= 1975241 |doi=10.1111/j.1432-1033.1990.tb19167.x }}
- {{cite journal |vauthors=Gieselmann V, Polten A, Kreysing J, von Figura K |title=Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 23 |pages= 9436–40 |year= 1990 |pmid= 2574462 |doi=10.1073/pnas.86.23.9436 | pmc=298511 }}
- {{cite journal | author=Geurts van Kessel AH |title=Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22 |journal=Cytogenet. Cell Genet. |volume=28 |issue= 3 |pages= 169–72 |year= 1981 |pmid= 7192199 |doi=10.1159/000131527}}
- {{cite journal |vauthors=Barth ML, Fensom A, Harris A |title=Identification of seven novel mutations associated with metachromatic leukodystrophy |journal=Hum. Mutat. |volume=6 |issue= 2 |pages= 170–6 |year= 1995 |pmid= 7581401 |doi= 10.1002/humu.1380060210 }}
- {{cite journal |vauthors=Schmidt B, Selmer T, Ingendoh A, von Figura K |title=A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency |journal=Cell |volume=82 |issue= 2 |pages= 271–8 |year= 1995 |pmid= 7628016 |doi=10.1016/0092-8674(95)90314-3 }}
- {{cite journal | author=Barth ML |title=Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population |journal=J. Med. Genet. |volume=31 |issue= 9 |pages= 667–71 |year= 1995 |pmid= 7815433 |doi=10.1136/jmg.31.9.667 | pmc=1050073 |name-list-format=vanc| author2=Ward C | author3=Harris A | display-authors=3 | last4=Saad | first4=A | last5=Fensom | first5=A }}
{{refend}}External links- [https://www.ncbi.nlm.nih.gov/books/NBK1130/ GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy]
- [https://www.ncbi.nlm.nih.gov/omim/250100,607574 OMIM entries on ARSA Deficiency]
- {{MeshName|Arylsulfatase+A}}
- {{UCSC gene info|ARSA}}
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