Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2

Timothy syndrome (TS) is a very rare multisystem disorder almost exclusively associated with mutations G402S and G406R in helix IS6 of Cav1.2. Recently, mutations R518C/H in helix IIS0 of the voltage sensing domain II (VSD-II) were described as a cause of cardiac-only TS. The three mutations are kno...

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Detalhes bibliográficos
Publicado no:Front Physiol
Main Authors: Korkosh, Vyacheslav S., Kiselev, Artem M., Mikhaylov, Evgeny N., Kostareva, Anna A., Zhorov, Boris S.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Physiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6449482/
https://ncbi.nlm.nih.gov/pubmed/30984024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2019.00335
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