Article
The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels.
Molecular brain - 2 Mar 2012
Simms Brett A, Zamponi Gerald W
Abstract excerpt
BACKGROUND: A loss of function of the L-type calcium channel, Cav1.2, results in a cardiac specific disease known as Brugada syndrome. Although many Brugada syndrome channelopathies reduce channel function, one point mutation in the N-terminus of Cav1.2 (A39V) has been shown to elicit disease a phenotype because of a loss of surface trafficking of the channel. This lack of cell membrane expression could not be...
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