Article
Characterization of the NPC1L1 gene and proteome from an exceptional responder to ezetimibe.
Atherosclerosis - 1 Mar 2016
Schweitzer Morris, Makhoul Sandra, Paliouras Miltiadis, Beitel Lenore K, Gottlieb Bruce, Trifiro Mark, Chowdhury Shafinaz F, Zaman Naif M, Wang Edwin, Davis Harry, Chalifour Lorraine E
Abstract excerpt
BACKGROUND: Strategies to reduce LDL-cholesterol involve reductions in cholesterol synthesis or absorption. We identified a familial hypercholesterolemia patient with an exceptional response to the cholesterol absorption inhibitor, ezetimibe. Niemann-Pick C 1-like 1 (NPC1L1) is the molecular target of ezetimibe. METHODS AND RESULTS: Sequencing identified nucleotide changes predicted to change amino acids 52...
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