Article
Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel.
The Journal of physiology - 1 Sept 2023
McCormick Liam, Wadmore Kirsty, Milburn Amy, Gupta Nitika, Morris Rachael, Held Marie, Prakash Ohm, Carr Joseph, Barrett-Jolley Richard, Dart Caroline, Helassa Nordine
Abstract excerpt
Calmodulin (CaM) is a highly conserved mediator of calcium (Ca2+ )-dependent signalling and modulates various cardiac ion channels. Genotyping has revealed several CaM mutations associated with long QT syndrome (LQTS). LQTS patients display prolonged ventricular recovery times (QT interval), increasing their risk of incurring life-threatening arrhythmic events. Loss-of-function mutations to Kv7.1 (which drives...
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