Article
Mutation E87Q of the β1-subunit impairs the maturation of the cardiac voltage-dependent sodium channel.
Scientific reports - 6 Sept 2017
Baroni Debora, Picco Cristiana, Moran Oscar
Abstract excerpt
Voltage-dependent sodium channels are responsible of the rising phase of the action potential in excitable cells. These membrane integral proteins are composed by a pore-forming α-subunit, and one or more auxiliary β subunits. Mutation E87Q of the β1 subunit is correlated with Brugada syndrome, a genetic disease characterised by ventricular fibrillation, right precordial ST segment elevation on ECG and sudden...
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