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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2008
Θέματα:
Article
Διαθέσιμο Online: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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