Aberrant trafficking of transmembrane proteins in human disease

被引:35
作者
Cobbold, C
Monaco, AP
Sivaprasadarao, A
Ponnambalam, S [1 ]
机构
[1] Univ Leeds, Sch Biochem & Mol Biol, Leeds LS2 9JT, W Yorkshire, England
[2] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[3] Univ Leeds, Sch Biomed Sci, Leeds LS2 9JT, W Yorkshire, England
基金
英国惠康基金; 英国医学研究理事会;
关键词
D O I
10.1016/j.tcb.2003.10.008
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Transmembrane domain (TMD) proteins comprise a major group of proteins that perform a wide range of functions and act to translate extracellular signals to intracellular responses. They include G-protein coupled receptors (GPCRs), growth factor receptors, ion channels, transporters and metabolic enzymes. In this review, we focus on the current understanding of trafficking of mutant membrane proteins in human disease and speculate on therapeutic strategies.
引用
收藏
页码:639 / 647
页数:9
相关论文
共 93 条
[1]   Traffic jams II: An update of diseases of intracellular transport [J].
Aridor, M ;
Hannan, LA .
TRAFFIC, 2002, 3 (11) :781-790
[2]   Traffic jam: A compendium of human diseases that affect intracellular transport processes [J].
Aridor, M ;
Hannan, LA .
TRAFFIC, 2000, 1 (11) :836-851
[3]   Functional and physical coupling of voltage-sensitive calcium channels with exocytotic proteins: ramifications for the secretion mechanism [J].
Atlas, D .
JOURNAL OF NEUROCHEMISTRY, 2001, 77 (04) :972-985
[4]   Signals for COPII-dependent export from the ER: what's the ticket out? [J].
Barlowe, C .
TRENDS IN CELL BIOLOGY, 2003, 13 (06) :295-300
[5]   GABAA receptor cell surface number and subunit stability are regulated by the ubiquitin-like protein Plic-1 [J].
Bedford, FK ;
Kittler, JT ;
Muller, E ;
Thomas, P ;
Uren, JM ;
Merlo, D ;
Wisden, W ;
Triller, A ;
Smart, TG ;
Moss, SJ .
NATURE NEUROSCIENCE, 2001, 4 (09) :908-916
[6]   N-glycans mediate the apical sorting of a GPI-anchored, raft-associated protein in Madin-Darby canine kidney cells [J].
Benting, JH ;
Rietveld, AG ;
Simons, K .
JOURNAL OF CELL BIOLOGY, 1999, 146 (02) :313-320
[7]   The role of regulated CFTR trafficking in epithelial secretion [J].
Bertrand, CA ;
Frizzell, RA .
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, 2003, 285 (01) :C1-C18
[8]   Biogenesis of polytopic membrane proteins: Membrane segments assemble within translocation channels prior to membrane integration [J].
Borel, AC ;
Simon, SM .
CELL, 1996, 85 (03) :379-389
[9]  
Brown CR, 1996, CELL STRESS CHAPERON, V1, P117, DOI 10.1379/1466-1268(1996)001<0117:CCCTMP>2.3.CO
[10]  
2