Fabrazyme
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Alpha-galactosidase is a glycoside hydrolase enzyme that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It is encoded by the GLA gene.[1]
Function
This enzyme is a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. It predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose.
Pathology
A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry's disease, a rare lysosomal storage disorder and sphingolipidosis that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.[2] Genzyme produces synthetic agalsidase beta under the brand name Fabrazyme for treatment of Fabry's disease.
Metabolism in vivo
See also
References
Further reading
- Naumoff DG (2004). "Phylogenetic analysis of -galactosidases of the GH27 family". Molecular Biology (Engl Transl) 38 (3): 388399. PMID 15285616. PDF
- Eng CM, Desnick RJ (1994). "Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.". Hum. Mutat. 3 (2): 10311. doi:10.1002/humu.1380030204. PMID 7911050.
- Caillaud C, Poenaru L (2002). "[Gaucher's and Fabry's diseases: biochemical and genetic aspects]". J. Soc. Biol. 196 (2): 13540. PMID 12360742.
- Germain DP (2002). "[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]". J. Soc. Biol. 196 (2): 16173. PMID 12360745.
- Schaefer E, Mehta A, Gal A (2005). "Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey.". Acta paediatrica (Oslo, Norway : 1992). Supplement 94 (447): 8792; discussion 79. doi:10.1080/08035320510031045. PMID 15895718.
- Levin M (2006). "Fabry disease.". Drugs Today 42 (1): 6570. doi:10.1358/dot.2006.42.1.957357. PMID 16511611.
- Lidove O, Joly D, Barbey F, et al. (2007). "Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature.". Int. J. Clin. Pract. 61 (2): 293302. doi:10.1111/j.1742-1241.2006.01237.x. PMID 17263716.
- Dean KJ, Sweeley CC (1979). "Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates.". J. Biol. Chem. 254 (20): 999410000. PMID 39940.
- Ishii S, Sakuraba H, Suzuki Y (1992). "Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.". Hum. Genet. 89 (1): 2932. doi:10.1007/BF00207037. PMID 1315715.
- Ioannou YA, Bishop DF, Desnick RJ (1992). "Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.". J. Cell Biol. 119 (5): 113750. doi:10.1083/jcb.119.5.1137. PMID 1332979.
- von Scheidt W, Eng CM, Fitzmaurice TF, et al. (1991). "An atypical variant of Fabry's disease with manifestations confined to the myocardium.". N. Engl. J. Med. 324 (6): 3959. PMID 1846223.
- Koide T, Ishiura M, Iwai K, et al. (1990). "A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.". FEBS Lett. 259 (2): 3536. doi:10.1016/0014-5793(90)80046-L. PMID 2152885.
- Kornreich R, Bishop DF, Desnick RJ (1990). "Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.". J. Biol. Chem. 265 (16): 931926. PMID 2160973.
- Sakuraba H, Oshima A, Fukuhara Y, et al. (1990). "Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.". Am. J. Hum. Genet. 47 (5): 7849. PMID 2171331.
- Bernstein HS, Bishop DF, Astrin KH, et al. (1989). "Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.". J. Clin. Invest. 83 (4): 13909. doi:10.1172/JCI114027. PMID 2539398.
- Kornreich R, Desnick RJ, Bishop DF (1989). "Nucleotide sequence of the human alpha-galactosidase A gene.". Nucleic Acids Res. 17 (8): 33012. doi:10.1093/nar/17.8.3301. PMID 2542896.
- Bishop DF, Kornreich R, Desnick RJ (1988). "Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.". Proc. Natl. Acad. Sci. U.S.A. 85 (11): 39037. doi:10.1073/pnas.85.11.3903. PMID 2836863.
- Quinn M, Hantzopoulos P, Fidanza V, Calhoun DH (1988). "A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.". Gene 58 (2-3): 17788. doi:10.1016/0378-1119(87)90374-X. PMID 2892762.
- Bishop DF, Calhoun DH, Bernstein HS, et al. (1986). "Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.". Proc. Natl. Acad. Sci. U.S.A. 83 (13): 485963. doi:10.1073/pnas.83.13.4859. PMID 3014515.
- Lemansky P, Bishop DF, Desnick RJ, et al. (1987). "Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease.". J. Biol. Chem. 262 (5): 20625. PMID 3029062.
- Tsuji S, Martin BM, Kaslow DC, et al. (1987). "Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.". Eur. J. Biochem. 165 (2): 27580. doi:10.1111/j.1432-1033.1987.tb11438.x. PMID 3036505.
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1r46: Structure of human alpha-galactosidase
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1r47: Structure of human alpha-galactosidase
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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This article is from Wikipedia. All text is available under the terms of the GFDL (GNU Free Documentation License)
http://en.wikipedia.org/wiki/Fabrazyme
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drug_details.asp Last Updated July 8 2009
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