Article
Trafficking defects in PAS domain mutant Kv11.1 channels: roles of reduced domain stability and altered domain-domain interactions.
The Biochemical journal - 15 Aug 2013
Ke Ying, Ng Chai Ann, Hunter Mark J, Mann Stefan A, Heide Juliane, Hill Adam P, Vandenberg Jamie I
Abstract excerpt
Loss of Kv11.1 potassium channel function is the underlying cause of pathology in long-QT syndrome type 2, one of the commonest causes of sudden cardiac death in the young. Previous studies have identified the cytosolic PAS (Per/Arnt/Sim) domain as a hotspot for mutations that cause Kv11.1 trafficking defects. To investigate the underlying basis of this observation, we have quantified the effect of mutants on...
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