Article
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Human molecular genetics - 1 Oct 2006
Choe Chi-un, Schulze-Bahr Eric, Neu Axel, Xu Jun, Zhu Zheng I, Sauter Kathrin, Bähring Robert, Priori Silvia, Guicheney Pascale, Mönnig Gerold, Neapolitano Carlo, Heidemann Jan, Clancy Colleen E, Pongs Olaf, Isbrandt Dirk
Abstract excerpt
Beta-adrenergic receptor-mediated cAMP or protein kinase A (PKA)-dependent modulation of cardiac potassium currents controls ventricular action potential duration (APD) at faster heart rates. HERG (KCNH2) gene mutations are associated with congenital long-QT syndrome (LQT2) and affect IKr activity, a key determinant in ventricular repolarization. Physical activity or emotional stress often triggers lethal...
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