The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in α-galactosidase A (α-Gal A) activity and subsequent accumulation of the substrate globotriaosylceramide (GL-3), which contributes to disease pathology. The pharmacological chaperone (PC) DGJ (1-deoxygalactonojirimycin)...

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Detalhes bibliográficos
Main Authors: Khanna, Richie, Soska, Rebecca, Lun, Yi, Feng, Jessie, Frascella, Michelle, Young, Brandy, Brignol, Nastry, Pellegrino, Lee, Sitaraman, Sheela A, Desnick, Robert J, Benjamin, Elfrida R, Lockhart, David J, Valenzano, Kenneth J
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2839206/
https://ncbi.nlm.nih.gov/pubmed/19773742
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2009.220
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