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

Simms, Brent A.; Zamponi, Gerald W.

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

Files

Simms Zamponi Mol brain 2012.pdf (1.05 MB)

Date

2012-03-02

Authors

Simms, Brent A.

Zamponi, Gerald W.

Publisher

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 Cavβ.

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

URI

http://hdl.handle.net/1880/106698
https://doi.org/10.11575/PRISM/43733

Collections

Cumming School of Medicine Research & Publications

Full item page