Article
Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.
American journal of physiology. Heart and circulatory physiology - 15 Apr 2014
Yuan Lei, Koivumäki Jussi T, Liang Bo, Lorentzen Lasse G, Tang Chuyi, Andersen Martin N, Svendsen Jesper H, Tfelt-Hansen Jacob, Maleckar Molly, Schmitt Nicole, Olesen Morten S, Jespersen Thomas
Abstract excerpt
Brugada syndrome (BrS) is a rare inherited disease that can give rise to ventricular arrhythmia and ultimately sudden cardiac death. Numerous loss-of-function mutations in the cardiac sodium channel Nav1.5 have been associated with BrS. However, few mutations in the auxiliary Navβ1-4 subunits have been linked to this disease. Here we investigated differences in expression and function between Navβ1 and Navβ1b and...
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