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- W2007029779 endingPage "72" @default.
- W2007029779 startingPage "64" @default.
- W2007029779 abstract "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." @default.
- W2007029779 created "2016-06-24" @default.
- W2007029779 creator A5034234543 @default.
- W2007029779 creator A5043258532 @default.
- W2007029779 creator A5072728065 @default.
- W2007029779 creator A5085852120 @default.
- W2007029779 date "2012-01-01" @default.
- W2007029779 modified "2023-10-16" @default.
- W2007029779 title "Genetic defects in the hotspot of inwardly rectifying K+ (Kir) channels and their metabolic consequences: A review" @default.
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