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Calmodulin mutations affecting Gly114 impair binding to the Na(V)1.5 IQ-domain
Missense variants in CALM genes encoding the Ca(2+)-binding protein calmodulin (CaM) cause severe cardiac arrhythmias. The disease mechanisms have been attributed to dysregulation of RyR2, for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) and/or Ca(V)1.2, for Long-QT Syndrome (LQTS)....
Autores principales: | Brohus, Malene, Busuioc, Ana-Octavia, Wimmer, Reinhard, Nyegaard, Mette, Overgaard, Michael Toft |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469309/ https://www.ncbi.nlm.nih.gov/pubmed/37663247 http://dx.doi.org/10.3389/fphar.2023.1210140 |
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