The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels

Simms, Brent A.Zamponi, Gerald W.2018-05-292018-05-292012-03-02Simms, 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/10.1186/1756-6606-5-9http://hdl.handle.net/1880/106698https://doi.org/10.11575/PRISM/43733A 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 Cavβ.enThe Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channelsjournal articlehttp://dx.doi.org/10.1186/1756-6606-5-9