Characterization of the NPC1L1 gene and proteome from an exceptional responder to ezetimibe
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- 作者：Morris Schweitzera ; b ; morris.schweitzer@mcgill.ca" class="auth_mail" title="E-mail the corresponding author ; Sandra Makhoulb ; Miltiadis Paliourasb ; c ; Lenore K. Beitela ; b ; Bruce Gottliebb ; Mark Trifiroa ; c ; Shafinaz F. Chowdhuryd ; Naif M. Zamand ; Edwin Wangd ; Harry Davise ; Lorraine E. Chalifoura ; b ; c
- 关键词：Cholesterol ; Cholesterol/absorption ; Cholesterol/cell and tissue ; Drug therapy/hypolipidemic drugs ; Genetics ; Proteomics
- 刊名：Atherosclerosis
- 出版年：2016
- 出版时间：March 2016
- 年：2016
- 卷：246
- 期：Complete
- 页码：78-86
- 全文大小：1573 K
文摘
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NPC1L1 exon 2 amino acid mutations identified in an exceptional ezetimibe responder.
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Molecular modeling showed altered cholesterol entry and cholesterol binding.
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Amino acid changes reduced cholesterol uptake when ezetimibe was present.
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Major amino acids changes involved are L52P and I300T.
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NPC1L1 protein:protein interactions are altered.