Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

Point mutations in β-glucocerebrosidase (GCase) can result in a deficiency of both GCase activity and protein in lysosomes thereby causing Gaucher Disease (GD). Enzyme inhibitors such as isofagomine, acting as pharmacological chaperones (PCs), increase these levels by binding and stabilizing the nat...

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Main Authors: Tropak, Michael B., Kornhaber, Gregory J., Rigat, Brigitte A., Maegawa, Gustavo H., Buttner, Justin D., Blanchard, Jan E., Murphy, Cecilia, Tuske, Steven J., Coales, Stephen J., Hamuro, Yoshitomo, Brown, Eric D., Mahuran, Don J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910749/
https://ncbi.nlm.nih.gov/pubmed/18972510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cbic.200800304
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