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Monogenic hypercholesterolemia: new insights in pathogenesis and treatment.

作者信息

Rader Daniel J, Cohen Jonathan, Hobbs Helen H

机构信息

Department of Medicine and Center for Experimental Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

出版信息

J Clin Invest. 2003 Jun;111(12):1795-803. doi: 10.1172/JCI18925.

DOI:10.1172/JCI18925
PMID:12813012
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC161432/
Abstract
摘要

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本文引用的文献

1
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.前蛋白转化酶枯草溶菌素9（PCSK9）基因的突变会导致常染色体显性遗传高胆固醇血症。
Nat Genet. 2003 Jun;34(2):154-6. doi: 10.1038/ng1161.
2
Molecular mechanisms of autosomal recessive hypercholesterolemia.常染色体隐性高胆固醇血症的分子机制
Curr Opin Lipidol. 2003 Apr;14(2):121-7. doi: 10.1097/00041433-200304000-00002.
3
LDL apheresis.低密度脂蛋白单采术
Atherosclerosis. 2003 Mar;167(1):1-13. doi: 10.1016/s0021-9150(02)00251-4.
4
The secretory proprotein convertase neural apoptosis-regulated convertase 1 (NARC-1): liver regeneration and neuronal differentiation.分泌性前蛋白转化酶神经细胞凋亡调节转化酶1（NARC-1）：肝脏再生与神经元分化
Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):928-33. doi: 10.1073/pnas.0335507100. Epub 2003 Jan 27.
5
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.通过逆转录病毒表达ARH1恢复常染色体隐性高胆固醇血症患者细胞中低密度脂蛋白受体功能。
J Clin Invest. 2002 Dec;110(11):1695-702. doi: 10.1172/JCI16445.
6
Structure of the LDL receptor extracellular domain at endosomal pH.内体pH值下低密度脂蛋白受体胞外结构域的结构
Science. 2002 Dec 20;298(5602):2353-8. doi: 10.1126/science.1078124. Epub 2002 Nov 29.
7
The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery.常染色体隐性高胆固醇血症（ARH）蛋白直接与网格蛋白包被机制相互作用。
Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16099-104. doi: 10.1073/pnas.252630799. Epub 2002 Nov 25.
8
Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.小鼠中Abcg5和Abcg8基因的破坏揭示了它们在胆汁胆固醇分泌中的关键作用。
Proc Natl Acad Sci U S A. 2002 Dec 10;99(25):16237-42. doi: 10.1073/pnas.252582399. Epub 2002 Nov 20.
9
ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.ARH是一种模块化衔接蛋白，可与低密度脂蛋白受体、网格蛋白和AP-2相互作用。
J Biol Chem. 2002 Nov 15;277(46):44044-9. doi: 10.1074/jbc.M208539200. Epub 2002 Sep 8.
10
MRC/BHF Heart Protection Study of cholesterol lowering with simvastatin in 20,536 high-risk individuals: a randomised placebo-controlled trial.辛伐他汀降低胆固醇对20536例高危个体的MRC/BHF心脏保护研究：一项随机安慰剂对照试验。
Lancet. 2002 Jul 6;360(9326):7-22. doi: 10.1016/S0140-6736(02)09327-3.