芳基硫酸酯酶A
芳基硫酸酯酶A(Arylsulfatase A、ARSA、酰基硫酸酯酶A、脑苷硫酸酯酶/cerebroside-sulfatase、芳香基硫酸酯酶A)属于酶之一种，它可以分解脑硫脂(sulfatide)，即分解"脑苷3硫酸"(cerebroside 3-sulfate)为脑苷脂及硫酸盐。在人类中，芳基硫酸酯酶A由ARSA基因编码。[1][2]
病理机制
编辑生物化学
编辑酶调节
编辑芳基硫酸酯酶A被磷酸盐所抑制，从而与活性位点"3-甲酰甘氨酸"(3-formylglycine/3-oxoalanine)形成一个共价键。[4]
参见
编辑注释
编辑- ^ Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K. Cloning and expression of human arylsulfatase A. J. Biol. Chem. January 1989, 264 (2): 1252–9. PMID 2562955.
- ^ Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch R, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum. Mol. Genet. May 2005, 14 (9): 1139–52. PMID 15772092. doi:10.1093/hmg/ddi126.
- ^ Sevin C, Aubourg P, Cartier N. Enzyme, cell and gene-based therapies for metachromatic leukodystrophy. J. Inherit. Metab. Dis. April 2007, 30 (2): 175–83. PMID 17347913. doi:10.1007/s10545-007-0540-z.
- ^ Arylsulfatase A / ARSA Summary & Protein Information. [12 September 2014]. （原始内容存档于2017-08-05）.
延伸阅读
编辑- Narahara K; Takahashi Y; Murakami M; et al. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. J. Med. Genet. 1992, 29 (6): 432–3. PMC 1016000
. PMID 1352356. doi:10.1136/jmg.29.6.432. - Gieselmann V; Zlotogora J; Harris A; et al. Molecular genetics of metachromatic leukodystrophy. Hum. Mutat. 1995, 4 (4): 233–42. PMID 7866401. doi:10.1002/humu.1380040402.
- DeLuca C, Brown JA, Shows TB. Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B. Proc. Natl. Acad. Sci. U.S.A. 1979, 76 (4): 1957–61. PMC 383512 . PMID 36611. doi:10.1073/pnas.76.4.1957.
- Fujii T; Kobayashi T; Honke K; et al. Proteolytic processing of human lysosomal arylsulfatase A. Biochim. Biophys. Acta. 1992, 1122 (1): 93–8. PMID 1352993. doi:10.1016/0167-4838(92)90132-W.
- Kappler J, von Figura K, Gieselmann V. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann. Neurol. 1992, 31 (3): 256–61. PMID 1353340. doi:10.1002/ana.410310305.
- Li ZG, Waye JS, Chang PL. Diagnosis of arylsulfatase A deficiency. Am. J. Med. Genet. 1992, 43 (6): 976–82. PMID 1357970. doi:10.1002/ajmg.1320430614.
- Polten A; Fluharty AL; Fluharty CB; et al. Molecular basis of different forms of metachromatic leukodystrophy. N. Engl. J. Med. 1991, 324 (1): 18–22. PMID 1670590. doi:10.1056/NEJM199101033240104.
- Kondo R; Wakamatsu N; Yoshino H; et al. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Am. J. Hum. Genet. 1991, 48 (5): 971–8. PMC 1683039 . PMID 1673291.
- Nelson PV, Carey WF, Morris CP. Population frequency of the arylsulphatase A pseudo-deficiency allele. Hum. Genet. 1991, 87 (1): 87–8. PMID 1674719. doi:10.1007/BF01213099.
- Bohne W, von Figura K, Gieselmann V. An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy. Hum. Genet. 1991, 87 (2): 155–8. PMID 1676699. doi:10.1007/BF00204172.
- Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am. J. Hum. Genet. 1991, 49 (2): 407–13. PMC 1683316 . PMID 1678251.
- Fluharty AL; Fluharty CB; Bohne W; et al. Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am. J. Hum. Genet. 1992, 49 (6): 1340–50. PMC 1686463 . PMID 1684088.
- Kreysing J, von Figura K, Gieselmann V. Structure of the arylsulfatase A gene. Eur. J. Biochem. 1990, 191 (3): 627–31. PMID 1975241. doi:10.1111/j.1432-1033.1990.tb19167.x.
- Gieselmann V, Polten A, Kreysing J, von Figura K. Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. Proc. Natl. Acad. Sci. U.S.A. 1990, 86 (23): 9436–40. PMC 298511 . PMID 2574462. doi:10.1073/pnas.86.23.9436.
- Geurts van Kessel AH. Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22. Cytogenet. Cell Genet. 1981, 28 (3): 169–72. PMID 7192199. doi:10.1159/000131527.
- Barth ML, Fensom A, Harris A. Identification of seven novel mutations associated with metachromatic leukodystrophy. Hum. Mutat. 1995, 6 (2): 170–6. PMID 7581401. doi:10.1002/humu.1380060210.
- Schmidt B, Selmer T, Ingendoh A, von Figura K. A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell. 1995, 82 (2): 271–8. PMID 7628016. doi:10.1016/0092-8674(95)90314-3.
- Barth ML; Ward C; Harris A; et al. Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population. J. Med. Genet. 1995, 31 (9): 667–71. PMC 1050073 . PMID 7815433. doi:10.1136/jmg.31.9.667.
