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Molecular Basis of Reduced Glucosylceramidase Activity in the Most Common Gaucher Disease Mutant, N370S

Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations. Various treatments for Gaucher disease ar...

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Hlavní autoři: Offman, Marc N., Krol, Marcin, Silman, Israel, Sussman, Joel L., Futerman, Anthony H.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3009936/
https://ncbi.nlm.nih.gov/pubmed/20980259
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.172098
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