Identification and characterization of NPC1L1 variants in Uygur and Kazakh with extreme low-density lipoprotein cholesterol
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- 作者：Qinghua Yuana ; b ; 1 ; yuanqinghua2005@sina.com" class="auth_mail" title="E-mail the corresponding author ; Zhenyan Fua ; b ; 1 ; fuzhenyan316@126.com" class="auth_mail" title="E-mail the corresponding author ; Jian Weic ; weijian@sibs.ac.cn" class="auth_mail" title="E-mail the corresponding author ; Pei-Shan Lic ; lipeishan@sibs.ac.cn" class="auth_mail" title="E-mail the corresponding author ; Hong-Hua Miaoc ; hhmiao@sibcb.ac.cn" class="auth_mail" title="E-mail the corresponding author ; Yu-Xiu Quc ; yxqu@sibs.ac.cn" class="auth_mail" title="E-mail the corresponding author ; Jie Xuc ; joyxusss@163.com" class="auth_mail" title="E-mail the corresponding author ; Jie Qinc ; qjayadam@126.com" class="auth_mail" title="E-mail the corresponding author ; Bo-Liang Lic ; blli@sibcb.ac.cn" class="auth_mail" title="E-mail the corresponding author ; Bao-Liang Songc ; d ; blsong@whu.edu.cn" class="auth_mail" title="E-mail the corresponding author ; Yitong Maa ; b ; myt-xj@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Low-density lipoprotein cholesterol ; NPC1L1 ; Cholesterol absorption ; Variants
- 刊名：Biochemical and Biophysical Research Communications
- 出版年：2016
- 出版时间：28 October 2016
- 年：2016
- 卷：479
- 期：4
- 页码：628-635
- 全文大小：1190 K
文摘
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We uncovered 3 nonsynonymous (NS) and 64 synonymous variations in NPC1L1 gene.
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The 3 novel NS variations encoding R174H, V177I, and V1284L substitutions are found restricted to the Uygur and Kazakh groups.
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The response to cholesterol alteration, glycosylation, stability and in vivo function assay of all the NPC1L1 variants displayed no difference with the wild-type.