The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels
Date
2012-03-02
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BioMed Central Ltd.
Abstract
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 rescued by the trafficking chaperone CavĪ².
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Citation
Simms, B. A., & Zamponi, G. W. (2012). The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels. Molecular Brain, 5(1). https://doi.org/10.1186/1756-6606-5-9