Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

Gaucher disease results from GBA1 mutations that lead to defective acid β-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS. The mutation, tissue, and age-dependent accumulations of different GC speci...

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Hlavní autoři: Sun, Ying, Zhang, Wujuan, Xu, You-Hai, Quinn, Brian, Dasgupta, Nupur, Liou, Benjamin, Setchell, Kenneth D. R., Grabowski, Gregory A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2013
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3592923/
https://ncbi.nlm.nih.gov/pubmed/23520473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0057560
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