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.

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页码：2435 / 2445

页数：11

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