Molecular biology of PCSK9: its role in LDL metabolism

被引：484
作者：
Horton, Jay D.
Cohen, Jonathan C.
Hobbs, Helen H.
机构：
[1] Univ Texas, SW Med Ctr, Dept Internal Med, Dallas, TX 75390 USA
[2] Univ Texas, SW Med Ctr, Dept Mol Genet, Dallas, TX 75390 USA
[3] Univ Texas, SW Med Ctr, Howard Hughes Med Inst, Dallas, TX 75390 USA
来源：
TRENDS IN BIOCHEMICAL SCIENCES | 2007年 / 32卷 / 02期
关键词：
D O I：
10.1016/j.tibs.2006.12.008
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Proprotein convertase subtilisin-like kexin type 9 (PCSK9) is a newly discovered serine protease that destroys low density lipoprotein (LDL) receptors in liver and thereby controls the level of LDL in plasma. Mutations that increase PCSK9 activity cause hypercholesterolemia and coronary heart disease (CHD); mutations that inactivate PCSK9 have the opposite effect, lowering LDL levels and reducing CHD. Although the mechanism of PCSK9 action is not yet clear, the protease provides a new therapeutic target to lower plasma levels of LDL and prevent CHD.
引用
收藏
页码：71 / 77
页数：7
相关论文
共 44 条
[41]   A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree [J].
Timms, KM ;
Wagner, S ;
Samuels, ME ;
Forbey, K ;
Goldfine, H ;
Jammulapati, S ;
Skolnick, MH ;
Hopkins, PN ;
Hunt, SC ;
Shattuck, DM .
HUMAN GENETICS, 2004, 114 (04) :349-353
[42]   Genetic variability in response to infection: malaria and after [J].
Weatherall, D ;
Clegg, JB .
GENES AND IMMUNITY, 2002, 3 (06) :331-337
[43]   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
[44]   Regulatory roles of the P domain of the subtilisin-like prohormone convertases [J].
Zhou, A ;
Martin, S ;
Lipkind, G ;
LaMendola, J ;
Steiner, DF .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1998, 273 (18) :11107-11114
12345