Ion channel diseases

被引：178

作者：

Hübner, CA

Jentsch, TJ

机构：

[1] Univ Hamburg, Zentrum Mol Neurobiol Hamburg, D-20246 Hamburg, Germany

[2] Univ Hamburg, Hosp Eppendorf, Inst Humangenet, D-20246 Hamburg, Germany

来源：

HUMAN MOLECULAR GENETICS | 2002年 / 11卷 / 20期

关键词：

D O I：

10.1093/hmg/11.20.2435

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：

Ion channels serve many functions apart from electrical signal transduction: chemical signalling (Ca2+ as a second messenger), transepithelial transport, regulation of cytoplasmic or vesicular ion concentration and pH, and regulation of cell volume. Therefore, ion channel dysfunction can cause diseases in many tissues. The list of human diseases known to be associated with defects in ion channels has grown considerably during the past years. This review gives a short overview of known channelopathies, and focuses in particular on recent findings and on channelopathies that have significantly advanced our physiological insight.

引用

收藏

页码：2435 / 2445

页数：11

相关论文

共 117 条

[11] MUSCARINIC SUPPRESSION OF A NOVEL VOLTAGE-SENSITIVE K+ CURRENT IN A VERTEBRATE NEURON [J].

BROWN, DA ;

ADAMS, PR .

NATURE, 1980, 283 (5748) :673-676

[12] EPISODIC ATAXIA MYOKYMIA SYNDROME IS ASSOCIATED WITH POINT MUTATIONS IN THE HUMAN POTASSIUM CHANNEL GENE, KCNA1 [J].

BROWNE, DL ;

GANCHER, ST ;

NUTT, JG ;

BRUNT, ERP ;

SMITH, EA ;

KRAMER, P ;

LITT, M .

NATURE GENETICS, 1994, 8 (02) :136-140

[13] A novel sodium channel mutation in a family with hypokalemic periodic paralysis [J].

Bulman, DE ;

Scoggan, KA ;

van Oene, MD ;

Nicolle, MW ;

Hahn, AF ;

Tollar, LL ;

Ebers, GC .

NEUROLOGY, 1999, 53 (09) :1932-1936

[14] A SODIUM-CHANNEL DEFECT IN HYPERKALEMIC PERIODIC PARALYSIS - POTASSIUM-INDUCED FAILURE OF INACTIVATION [J].

CANNON, SC ;

BROWN, RH ;

COREY, DP .

NEURON, 1991, 6 (04) :619-626

[15] THEORETICAL RECONSTRUCTION OF MYOTONIA AND PARALYSIS CAUSED BY INCOMPLETE INACTIVATION OF SODIUM-CHANNELS [J].

CANNON, SC ;

BROWN, RH ;

COREY, DP .

BIOPHYSICAL JOURNAL, 1993, 65 (01) :270-288

[16] Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 [J].

Chang, SS ;

Grunder, S ;

Hanukoglu, A ;

Rosler, A ;

Mathew, PM ;

Hanukoglu, I ;

Schild, L ;

Lu, Y ;

Shimkets, RA ;

NelsonWilliams, C ;

Rossier, BC ;

Lifton, RP .

NATURE GENETICS, 1996, 12 (03) :248-253

[17] A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family [J].

Charlier, C ;

Singh, NA ;

Ryan, SG ;

Lewis, TB ;

Reus, BE ;

Leach, RJ ;

Leppert, M .

NATURE GENETICS, 1998, 18 (01) :53-55

[18] Association between the α1a calcium channel gene CACNA1A and idiopathic generalized epilepsy [J].

Chioza, B ;

Wilkie, H ;

Nashef, L ;

Blower, J ;

McCormick, D ;

Sham, P ;

Asherson, P ;

Makoff, AJ .

NEUROLOGY, 2001, 56 (09) :1245-1246

[19] Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias [J].

Chouabe, C ;

Neyroud, N ;

Guicheney, P ;

Lazdunski, M ;

Romey, G ;

Barhanin, J .

EMBO JOURNAL, 1997, 16 (17) :5472-5479

[20] Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the CICN7chloride channel gene [J].

Cleiren, E ;

Bénichou, O ;

Van Hul, E ;

Gram, J ;

Bollerslev, J ;

Singer, FR ;

Beaverson, K ;

Aledo, A ;

Whyte, MP ;

Yoneyama, T ;

deVernejoul, MC ;

Van Hul, W .

HUMAN MOLECULAR GENETICS, 2001, 10 (25) :2861-2867

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