Arylsulfatase A

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Arylsulfatase A (ook wel cerebroside-sulfatase) is een enzyme dat de sulfaatgroep uit sulfaatbevattende vetten knipt (bv. cerebroside 3-sulfaat). Dit is de eerste stap in de afbraak van deze sulfaatbevattende vetten. Een tekort van dit enzyme leidt tot een ophoping van deze sulfatiden (zoals cerebroside sulfaat). Dit kan leiden tot metachromatische leukodystrofie. Het gen bevindt zich op chromosoom 22q[1].

Pathologie[bewerken]

Een deficiëntie van arylsulfatase A leidt tot metachromatische leukodystrofie.

Referentie[bewerken]

  1. Frosch, M.P., Anthony, D.C., De Girolami, U. "The Central Nervous System". In: Kumar, V., Abbas, A.K., Fausto, N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. Philadelphia: Elsevier, 2005; 1396

Lees verder[bewerken]

  • Narahara K, Takahashi Y, Murakami M, et al. (1992). Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.. J. Med. Genet. 29 (6): 432–3 . PMID:1352356.
  • Gieselmann V, Zlotogora J, Harris A, et al. (1995). Molecular genetics of metachromatic leukodystrophy.. Hum. Mutat. 4 (4): 233–42 . PMID:7866401. DOI:10.1002/humu.1380040402.
  • DeLuca C, Brown JA, Shows TB (1979). Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B.. Proc. Natl. Acad. Sci. U.S.A. 76 (4): 1957–61 . PMID:36611.
  • Fujii T, Kobayashi T, Honke K, et al. (1992). Proteolytic processing of human lysosomal arylsulfatase A.. Biochim. Biophys. Acta 1122 (1): 93–8 . PMID:1352993.
  • Kappler J, von Figura K, Gieselmann V (1992). Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.. Ann. Neurol. 31 (3): 256–61 . PMID:1353340. DOI:10.1002/ana.410310305.
  • Li ZG, Waye JS, Chang PL (1992). Diagnosis of arylsulfatase A deficiency.. Am. J. Med. Genet. 43 (6): 976–82 . PMID:1357970. DOI:10.1002/ajmg.1320430614.
  • Polten A, Fluharty AL, Fluharty CB, et al. (1991). Molecular basis of different forms of metachromatic leukodystrophy.. N. Engl. J. Med. 324 (1): 18–22 . PMID:1670590.
  • Kondo R, Wakamatsu N, Yoshino H, et al. (1991). Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.. Am. J. Hum. Genet. 48 (5): 971–8 . PMID:1673291.
  • Nelson PV, Carey WF, Morris CP (1991). Population frequency of the arylsulphatase A pseudo-deficiency allele.. Hum. Genet. 87 (1): 87–8 . PMID:1674719.
  • Bohne W, von Figura K, Gieselmann V (1991). An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.. Hum. Genet. 87 (2): 155–8 . PMID:1676699.
  • Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K (1991). Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.. Am. J. Hum. Genet. 49 (2): 407–13 . PMID:1678251.
  • Fluharty AL, Fluharty CB, Bohne W, et al. (1992). Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.. Am. J. Hum. Genet. 49 (6): 1340–50 . PMID:1684088.
  • Kreysing J, von Figura K, Gieselmann V (1990). Structure of the arylsulfatase A gene.. Eur. J. Biochem. 191 (3): 627–31 . PMID:1975241.
  • Stein C, Gieselmann V, Kreysing J, et al. (1989). Cloning and expression of human arylsulfatase A.. J. Biol. Chem. 264 (2): 1252–9 . PMID:2562955.
  • Gieselmann V, Polten A, Kreysing J, von Figura K (1990). Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.. Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9436–40 . PMID:2574462.
  • Geurts van Kessel AH, Westerveld A, de Groot PG, et al. (1981). Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22.. Cytogenet. Cell Genet. 28 (3): 169–72 . PMID:7192199.
  • Barth ML, Fensom A, Harris A (1995). Identification of seven novel mutations associated with metachromatic leukodystrophy.. Hum. Mutat. 6 (2): 170–6 . PMID:7581401. DOI:10.1002/humu.1380060210.
  • Schmidt B, Selmer T, Ingendoh A, von Figura K (1995). A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency.. Cell 82 (2): 271–8 . PMID:7628016.
  • Barth ML, Ward C, Harris A, et al. (1995). Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.. J. Med. Genet. 31 (9): 667–71 . PMID:7815433.