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The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms

Gaucher disease is a lysosomal storage disorder caused by deficiency in lysosomal acid β-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide. One of the most prevalent disease-causing mutations, N370S, results in an enzyme with lower catalytic activity and impaired...

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Detalhes bibliográficos
Main Authors: Steet, Richard A., Chung, Stephen, Wustman, Brandon, Powe, Allan, Do, Hung, Kornfeld, Stuart A.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2006
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1564243/
https://ncbi.nlm.nih.gov/pubmed/16945909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0605928103
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