Article
Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.
Human molecular genetics - 5 Jun 2023
Jensen Helene H, Frantzen Magnus T, Wesseltoft Jonas L, Busuioc Ana-Octavia, Møller Katrine V, Brohus Malene, Duun Palle R, Nyegaard Mette, Overgaard Michael T, Olsen Anders
Abstract excerpt
In humans, mutations in calmodulin cause cardiac arrhythmia. These mutations disrupt the ability of calmodulin to sense calcium concentrations and correctly regulate two central calcium channels, together obstructing heart rhythm. This correlation is well established, but also surprising since calmodulin is expressed in all tissues and interacts with hundreds of proteins. Until now, most studies have focused on...
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