Article
Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy.
Journal of molecular and cellular cardiology - 1 May 2013
Paavola Jere, Schliffke Simon, Rossetti Sandro, Kuo Ivana Y-T, Yuan Shiaulou, Sun Zhaoxia, Harris Peter C, Torres Vicente E, Ehrlich Barbara E
Abstract excerpt
Mutations in PKD1 and PKD2, the genes encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2), cause autosomal dominant polycystic kidney disease (ADPKD). Although the leading cause of mortality in ADPKD is cardiovascular disease, the relationship between these conditions remains poorly understood. PC2 is an intracellular calcium channel expressed in renal epithelial cells and in cardiomyocytes, and is...
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