Combination of acid β-glucosidase mutation and Saposin C deficiency in mice reveals Gba1 mutation dependent and tissue-specific disease phenotype

Gaucher disease is caused by mutations in GBA1 encoding acid β-glucosidase (GCase). Saposin C enhances GCase activity and protects GCase from intracellular proteolysis. Structure simulations indicated that the mutant GCases, N370S (0 S), V394L (4L) and D409V(9V)/H(9H), had altered function. To inves...

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Publicado no:Sci Rep
Main Authors: Liou, Benjamin, Zhang, Wujuan, Fannin, Venette, Quinn, Brian, Ran, Huimin, Xu, Kui, Setchell, Kenneth D. R., Witte, David, Grabowski, Gregory A., Sun, Ying
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6447580/
https://ncbi.nlm.nih.gov/pubmed/30944381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-41914-7
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