Article
A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia.
Cardiovascular research - 1 Jul 2015
Liu Guan-Sheng, Morales Ana, Vafiadaki Elizabeth, Lam Chi Keung, Cai Wen-Feng, Haghighi Kobra, Adly George, Hershberger Ray E, Kranias Evangelia G
Abstract excerpt
AIMS: Depressed sarcoplasmic reticulum (SR) Ca(2+) cycling, a universal characteristic of human and experimental heart failure, may be associated with genetic alterations in key Ca(2+)-handling proteins. In this study, we identified a novel PLN mutation (R25C) in dilated cardiomyopathy (DCM) and investigated its functional significance in cardiomyocyte Ca(2+)-handling and contractility. METHODS AND RESULTS: Exome...
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