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Cantu syndrome-associated SUR2 ( ABCC9 ) mutations in distinct structural domains result in K ATP channel gain-of-function by differential mechanisms

2017-10-26

Abstract excerpt

The complex cardiovascular disorder Cantu Syndrome arises from gain-of-function mutations in either KCNJ8 or ABCC9 , the genes encoding the Kir6.1 and SUR2 subunits of ATP-sensitive potassium (K ATP ) channels. Recent reports indicate that such mutations can increase channel activity by multiple molecular mechanisms. In this study, we determine the mechanism by which K ATP function is altered by several mutati...

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Literature Corpus work: 81e19ca9-b6ab-55d3-b058-43b03a979ba9
DOI: 10.1101/209783

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Cantu syndrome-associated SUR2 ( <i>ABCC9</i> ) mutations in distinct structural domains result in K <sub>ATP</sub> channel gain-of-function by differential mechanisms

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