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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2008
Gaiak:
Sarrera elektronikoa: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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