Structure–activity relationship studies of Niemann-Pick type C1-like 1 (NPC1L1) ligands identified by screening assay monitoring pharmacological chaperone effect

F Karaki, K Ohgane, K Dodo, Y Hashimoto

Index: Karaki, Fumika; Ohgane, Kenji; Dodo, Kosuke; Hashimoto, Yuichi Bioorganic and Medicinal Chemistry, 2013 , vol. 21, # 17 p. 5297 - 5309

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Citation Number: 3

Abstract

Abstract A number of hereditary diseases are caused by defective protein trafficking due to a folding defect resulting from point mutations in proteins. Ligands that bind to the folding intermediates of such mutant proteins and rescue their trafficking defects, known as pharmacological chaperones, have promise for the treatment of certain genetic diseases, including Fabry disease, cystic fibrosis, and Niemann-Pick disease type C. Here we show ...