A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption
文献类型：期刊论文
| 作者 | Zhang, Ying-Yu1,2; Miao, Hong-Hua1; Li, Bo-Liang1; Wei, Jian2; Luo, Jie2; Jiang, Shi-You2; Li, Yun-Feng2; Liu, Yong2; Wang, Yan2; Song, Bao-Liang2 |
| 刊名 | SCIENCE
 |
| 出版日期 | 2018 |
| 卷号 | 360期号:6393页码:1087-1092 |
| ISSN号 | 0036-8075 |
| DOI | 10.1126/science.aao6575 |
| 文献子类 | Article |
| 英文摘要 | A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1-deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. |
| 学科主题 | Science & Technology - Other Topics |
| WOS关键词 | HEART-DISEASE ; NPC1L1 ; PROTEIN ; HYPERCHOLESTEROLEMIA ; EZETIMIBE ; RECEPTOR ; INTERNALIZATION ; COMPARTMENT ; MUTATIONS ; MEMBRANE |
| 语种 | 英语 |
| WOS记录号 | WOS:000434635500038 |
| 出版者 | AMER ASSOC ADVANCEMENT SCIENCE |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/623]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Univ Chinese Acad Sci, Chinese Acad Sci, Inst Biochem & Cell Biol, State Key Lab Mol Biol, Shanghai 200031, Peoples R China; 2.Wuhan Univ, Inst Adv Studies, Coll Life Sci, Hubei Key Lab Cell Homeostasis, Wuhan 430072, Hubei, Peoples R China; 3.ShanghaiTech Univ, Sch Life Sci & Technol, Shanghai 200031, Peoples R China; 4.Xinjiang Med Univ, State Key Lab Pathogenesis Prevent & Treatment Hi, Heart Ctr, Affiliated Hosp 1, Urumqi 830054, Xinjiang, Peoples R China; 5.Chinese Acad Sci, Inst Nutr Sci, Shanghai Inst Biol Sci, Shanghai 200031, Peoples R China, |
| 推荐引用方式 GB/T 7714 | Zhang, Ying-Yu,Miao, Hong-Hua,Li, Bo-Liang,et al. A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption[J]. SCIENCE,2018,360(6393):1087-1092. |
| APA | Zhang, Ying-Yu.,Miao, Hong-Hua.,Li, Bo-Liang.,Wei, Jian.,Luo, Jie.,...&,.(2018).A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption.SCIENCE,360(6393),1087-1092. |
| MLA | Zhang, Ying-Yu,et al."A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption".SCIENCE 360.6393(2018):1087-1092. |
入库方式： OAI收割
来源：上海营养与健康研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。