Looking chloride channels straight in the eye: Bestrophins, lipofuscinosis, and retinal degeneration

被引：76

作者：

Hartzell, C ^{[1
]}

Qu, ZQ ^{[1
]}

Putzier, I ^{[1
]}

Artinian, L ^{[1
]}

Chien, LT ^{[1
]}

Cui, YY ^{[1
]}

机构：

[1] Emory Univ, Sch Med, Dept Cell Biol, Ctr Neurodegenerat Dis, Atlanta, GA 30322 USA

来源：

PHYSIOLOGY | 2005年 / 20卷

关键词：

D O I：

10.1152/physiol.00021.2005

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Recent evidence suggests that Cl- ion channels are important for retinal integrity. Bestrophin Cl- channel mutations in humans are genetically linked to a juvenile form of macular degeneration, and disruption of some ClC Cl- channels in mice leads to retinal degeneration. In both cases, accumulation of lipofuscin pigment is a key feature of the cellular degeneration. Because Cl- channels regulate the ionic environment inside organelles in the endosomal-lysosomal pathway, retinal degeneration may result from defects in lysosomal trafficking or function.

引用

页码：292 / 302

页数：11

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