Calmodulin mutations affecting Gly114 impair binding to the NaV1.5 IQ-domain

Missense variants in CALM genes encoding the Ca2+-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 CaV1.2, for Long-QT Syndrome (LQTS). Rece...

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Autors principals:	Malene Brohus, Ana-Octavia Busuioc, Reinhard Wimmer, Mette Nyegaard, Michael Toft Overgaard
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2023-08-01
Col·lecció:	Frontiers in Pharmacology
Matèries:	calmodulin calmodulinopathy arrhythmogenic cardiac ion-channel regulation calmodulin target binding experimental variant interpretation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fphar.2023.1210140/full
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