The Niemann-Pick disease genes - Regulators of cellular cholesterol homeostasis

被引：65

作者：

Ory, DS

机构：

[1] Washington Univ, Sch Med, Cardiovasc Res Ctr, Dept Internal Med, St Louis, MO 63110 USA

[2] Washington Univ, Sch Med, Dept Cell Biol & Physiol, St Louis, MO 63110 USA

来源：

TRENDS IN CARDIOVASCULAR MEDICINE | 2004年 / 14卷 / 02期

关键词：

D O I：

10.1016/j.tcm.2003.12.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Cellular cholesterol homeostasis is maintained through activation of the designated sterol regulatory element binding proteins and liver X receptor transcriptional pathways. Insight into the molecular mechanisms that regulate these pathways has come from the study of Niemann-Pick C (NPC) disease. Mutations in the NPC1 and NPC2 disease genes lead to lysosomal accumulation of cholesterol and defects in regulation of sterol homeostatic responses. NPC1 and NPC2 are key participants in intracellular cholesterol trafficking and are required for production of low-density lipoprotein cholesterol-derived oxysterols. In this review, the function of NPC1 and NPC2 in sterol trafficking and regulation of cholesterol homeostasis is examined. Study of the NPC proteins will further understanding of the mechanisms involved in atherogenesis. (C) 2004, Elsevier Inc.

引用

收藏

页码：66 / 72

页数：7

相关论文

共 41 条

[1]

BLANCHETTEMACKI.EJ, 2003, 2 INT C NIEM PICK C

[2] Cholesterol addition to ER membranes alters conformation of SCAP, the SREBP escort protein that regulates cholesterol metabolism [J].

Brown, AJ ;

Sun, LP ;

Feramisco, JD ;

Brown, MS ;

Goldstein, JL .

MOLECULAR CELL, 2002, 10 (02) :237-245

[3] Nuclear receptors and lipid physiology: Opening the X-files [J].

Chawla, A ;

Repa, JJ ;

Evans, RM ;

Mangelsdorf, DJ .

SCIENCE, 2001, 294 (5548) :1866-1870

[4] Preferential ATP-binding cassette transporter A1-mediated cholesterol efflux from late endosomes/lysosomes [J].

Chen, W ;

Sun, Y ;

Welch, C ;

Gorelik, A ;

Leventhal, AR ;

Tabas, I ;

Tall, AR .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (47) :43564-43569

[5] Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease [J].

Choi, HY ;

Karten, B ;

Chan, T ;

Vance, JE ;

Greer, WL ;

Heidenreich, RA ;

Garver, WS ;

Francis, GA .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (35) :32569-32577

[6] Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein [J].

Davies, JP ;

Ioannou, YA .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (32) :24367-24374

[7] ABCAl-mediated cholesterol efflux is defective in free cholesterol-loaded macrophages [J].

Feng, B ;

Tabas, I .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (45) :43271-43280

[8] Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease [J].

Friedland, N ;

Liou, HL ;

Lobel, P ;

Stock, AM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (05) :2512-2517

[9] NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols [J].

Frolov, A ;

Zielinski, SE ;

Crowley, JR ;

Dudley-Rucker, N ;

Schaffer, JE ;

Ory, DS .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (28) :25517-25525

[10] Cholesterol overload promotes morphogenesis of a Niemann-Pick C (NPC)-like compartment independent of inhibition of NPC1 or HE1/NPC2 function [J].

Frolov, A ;

Srivastava, K ;

Daphna-Iken, D ;

Traub, LM ;

Schaffer, JE ;

Ory, DS .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (49) :46414-46421

← 1 2 3 4 5 →