Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

Fabry disease is a lysosomal storage disorder caused by the deficiency of α-Gal A (α-galactosidase A) activity. In order to understand the molecular mechanism underlying α-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purifie...

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Hlavní autoři: Ishii, Satoshi, Chang, Hui-Hwa, Kawasaki, Kunito, Yasuda, Kayo, Wu, Hui-Li, Garman, Scott C., Fan, Jian-Qiang
Médium: Artigo
Jazyk:Inglês
Vydáno: Portland Press Ltd. 2007
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1948963/
https://ncbi.nlm.nih.gov/pubmed/17555407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20070479
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