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Discovery of Oxysterol-Derived Pharmacological Chaperones for NPC1: Implication for the Existence of Second Sterol-Binding Site
Authors:Kenji Ohgane  Fumika Karaki  Kosuke Dodo  Yuichi Hashimoto
Affiliation:1. Institute of Molecular and Cellular Biosciences, The University of Tokyo, Bunkyo-ku, Tokyo 113-0032, Japan;2. RIKEN, Wako, Saitama 351-0198, Japan
Abstract:
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  • Highlights? Niemann-Pick disease type C is caused by folding defect in NPC1 protein ? Oxysterols and chemically optimized derivatives act as pharmacological chaperones ? Defects in localization, stability, maturation, and function were corrected in cell ? These derivatives bind to second sterol-binding site on NPC1 protein
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