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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Principais autores:	Vyacheslav S. Korkosh, Artem M. Kiselev, Evgeny N. Mikhaylov, Anna A. Kostareva, Boris S. Zhorov
格式:	Artigo
语言:	Inglês
出版:	Frontiers Media S.A. 2019-03-01
丛编:	Frontiers in Physiology
主题:	channel gating channelopathies cardiac arrhythmias voltage-dependent inactivation state-dependent contacts LQTS
在线阅读:	https://www.frontiersin.org/article/10.3389/fphys.2019.00335/full
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