Simple Genetics for a Complex Disease

被引：41

作者：

Cohen, Jonathan C. ^{[1
,2
,3
]}

Hobbs, Helen H. ^{[1
,2
,4
]}

机构：

[1] Univ Texas SW Med Ctr Dallas, Dept Internal Med, Dallas, TX 75390 USA

[2] Univ Texas SW Med Ctr Dallas, Dept Mol Genet, Dallas, TX 75390 USA

[3] Univ Texas SW Med Ctr Dallas, Ctr Human Nutr, Dallas, TX 75390 USA

[4] Univ Texas SW Med Ctr Dallas, Howard Hughes Med Res Inst, Dallas, TX 75390 USA

来源：

SCIENCE | 2013年 / 340卷 / 6133期

关键词：

MOLECULAR CHARACTERIZATION; PCSK9; CHOLESTEROL; MUTATIONS;

D O I：

10.1126/science.1239101

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

引用

页码：689 / 690

页数：2

共 9 条

[1] Mutations in PCSK9 cause autosomal dominant hypercholesterolemia [J].

Abifadel, M ;

Varret, M ;

Rabès, JP ;

Allard, D ;

Ouguerram, K ;

Devillers, M ;

Cruaud, C ;

Benjannet, S ;

Wickham, L ;

Erlich, D ;

Derré, A ;

Villéger, L ;

Farnier, M ;

Beucler, I ;

Bruckert, E ;

Chambaz, J ;

Chanu, B ;

Lecerf, JM ;

Luc, G ;

Moulin, P ;

Weissenbach, J ;

Prat, A ;

Krempf, M ;

Junien, C ;

Seidah, NG ;

Boileau, C .

NATURE GENETICS, 2003, 34 (02) :154-156

[2] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J].

BROWN, MS ;

GOLDSTEIN, JL .

SCIENCE, 1986, 232 (4746) :34-47

[3] SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion [J].

Chen, Xiao-Wei ;

Wang, He ;

Bajaj, Kanika ;

Zhang, Pengcheng ;

Meng, Zhuo-Xian ;

Ma, Danjun ;

Bai, Yongsheng ;

Liu, Hui-Hui ;

Adams, Elizabeth ;

Baines, Andrea ;

Yu, Genggeng ;

Sartor, Maureen A. ;

Zhang, Bin ;

Yi, Zhengping ;

Lin, Jiandie ;

Young, Stephen G. ;

Schekman, Randy ;

Ginsburg, David .

ELIFE, 2013, 2

[4] Sequence variations in PCSK9, low LDL, and protection against coronary heart disease [J].

Cohen, JC ;

Boerwinkle, E ;

Mosley, TH ;

Hobbs, HH .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (12) :1264-1272

[5] The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population [J].

Hooper, Amanda J. ;

Marais, A. David ;

Tanyanyiwa, Donald M. ;

Burnett, John R. .

ATHEROSCLEROSIS, 2007, 193 (02) :445-448

[6] PCSK9: a convertase that coordinates LDL catabolism [J].

Horton, Jay D. ;

Cohen, Jonathan C. ;

Hobbs, Helen H. .

JOURNAL OF LIPID RESEARCH, 2009, 50 :S172-S177

[7] Potential of Proprotein Convertase Subtilisin/Kexin Type 9 Based Therapeutics [J].

Stein, Evan A. ;

Swergold, Gary D. .

CURRENT ATHEROSCLEROSIS REPORTS, 2013, 15 (03)

[8] Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR [J].

Wang, Yan ;

Huang, Yongcheng ;

Hobbs, Helen H. ;

Cohen, Jonathan C. .

JOURNAL OF LIPID RESEARCH, 2012, 53 (09) :1932-1943

[9] Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote [J].

Zhao, Zhenze ;

Tuakli-Wosornu, Yetsa ;

Lagace, Thomas A. ;

Kinch, Lisa ;

Grishin, Nicholas V. ;

Horton, Jay D. ;

Cohen, Jonathan C. ;

Hobbs, Helen H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (03) :514-523

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