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通道病:对人类疾病分子和遗传机制的新见解。

The channelopathies: novel insights into molecular and genetic mechanisms of human disease.

作者信息

Kass Robert S

机构信息

Department of Pharmacology, Columbia University Medical Center, New York, New York 10032, USA.

出版信息

J Clin Invest. 2005 Aug;115(8):1986-9. doi: 10.1172/JCI26011.

DOI:10.1172/JCI26011
PMID:16075038
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1180558/
Abstract

Ion channels are pore-forming proteins that provide pathways for the controlled movement of ions into or out of cells. Ionic movement across cell membranes is critical for essential and physiological processes ranging from control of the strength and duration of the heartbeat to the regulation of insulin secretion in pancreatic beta cells. Diseases caused by mutations in genes that encode ion channel subunits or regulatory proteins are referred to as channelopathies. As might be expected based on the diverse roles of ion channels, channelopathies range from inherited cardiac arrhythmias, to muscle disorders, to forms of diabetes. This series of reviews examines the roles of ion channels in health and disease.

摘要

离子通道是形成孔道的蛋白质,为离子进出细胞的可控运动提供途径。离子跨细胞膜的运动对于从控制心跳的强度和持续时间到调节胰腺β细胞中胰岛素分泌等基本生理过程至关重要。由编码离子通道亚基或调节蛋白的基因突变引起的疾病被称为离子通道病。基于离子通道的多种作用,可以预期离子通道病的范围从遗传性心律失常到肌肉疾病,再到各种形式的糖尿病。本系列综述探讨了离子通道在健康和疾病中的作用。

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本文引用的文献

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The electrical constants of a crustacean nerve fibre.甲壳类神经纤维的电常数。
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ATP-sensitive potassium channelopathies: focus on insulin secretion.ATP敏感性钾通道病:聚焦于胰岛素分泌
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3
Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.由跨上皮运输或囊泡功能受损导致的氯化物通道疾病。
J Clin Invest. 2005 Aug;115(8):2039-46. doi: 10.1172/JCI25470.
4
Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels.由细胞内钙离子释放通道突变引起的心脏和骨骼肌疾病。
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Genetics of acquired long QT syndrome.获得性长QT综合征的遗传学
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Long QT syndrome: from channels to cardiac arrhythmias.长QT综合征:从离子通道到心律失常
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7
Sodium channel mutations in epilepsy and other neurological disorders.癫痫及其他神经系统疾病中的钠通道突变
J Clin Invest. 2005 Aug;115(8):2010-7. doi: 10.1172/JCI25466.
8
Muscle channelopathies and critical points in functional and genetic studies.肌肉离子通道病以及功能和遗传学研究中的关键点
J Clin Invest. 2005 Aug;115(8):2000-9. doi: 10.1172/JCI25525.
9
Inherited disorders of voltage-gated sodium channels.电压门控钠通道的遗传性疾病。
J Clin Invest. 2005 Aug;115(8):1990-9. doi: 10.1172/JCI25505.
10
Inherited and acquired vulnerability to ventricular arrhythmias: cardiac Na+ and K+ channels.遗传性和获得性心室心律失常易感性:心脏钠通道和钾通道。
Physiol Rev. 2005 Jan;85(1):33-47. doi: 10.1152/physrev.00005.2004.