期刊
MOLECULAR GENETICS AND METABOLISM
卷 105, 期 1, 页码 64-72出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.10.004
关键词
Kir channelopathy; Andersen-Tawil syndrome; EAST/SeSAME syndrome; Phosphoinositides; KCNJ; Retinopathy
资金
- UW-Madison School of Medicine and Public Health, Graduate School
- Department of Pediatrics (DMP), UW-Medical School
- UW-Eye Research Institute (Retina Research Foundation)
- Meriter Hospital
- Meriter Foundation
- NIH/NCRR [1UL1RR025011]
- UW Stem Cell and Regenerative Medicine Center
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025011] Funding Source: NIH RePORTER
Inwardly rectifying potassium (Kir) channels are essential for maintaining normal potassium homeostasis and the resting membrane potential. As a consequence, mutations in Kir channels cause debilitating diseases ranging from cardiac failure to renal, ocular, pancreatic, and neurological abnormalities. Structurally, Kir channels consist of two trans-membrane domains, a pore-forming loop that contains the selectivity filter and two cytoplasmic polar tails. Within the cytoplasmic structure, clusters of amino acid sequences form regulatory domains that interact with cellular metabolites to control the opening and closing of the channel. In this review, we present an overview of Kir channel function and recent progress in the characterization of selected Kir channel mutations that lie in and near a C-terminal cytoplasmic 'hotspot' domain. The resultant molecular mechanisms by which the loss or gain of channel function leads to organ failure provide potential opportunities for targeted therapeutic interventions for this important group of channelopathies. Published by Elsevier Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据