Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation

Timothy Syndrome (TS) is a multisystem disorder caused by two mutations leading to dysfunction of the CaV1.2 channel. Here, Dick et al. uncover a major and mechanistically divergent effect of both mutations on Ca2+/calmodulin-dependent inactivation of CaV1.2 channels, suggesting genetic variant-tail...

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Autores principales:	Ivy E. Dick, Rosy Joshi-Mukherjee, Wanjun Yang, David T. Yue
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2016
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/e30e38494b244ba9928aab1ec875756a
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spelling	oai:doaj.org-article:e30e38494b244ba9928aab1ec875756a2021-12-02T15:34:51ZArrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation10.1038/ncomms103702041-1723https://doaj.org/article/e30e38494b244ba9928aab1ec875756a2016-01-01T00:00:00Zhttps://doi.org/10.1038/ncomms10370https://doaj.org/toc/2041-1723Timothy Syndrome (TS) is a multisystem disorder caused by two mutations leading to dysfunction of the CaV1.2 channel. Here, Dick et al. uncover a major and mechanistically divergent effect of both mutations on Ca2+/calmodulin-dependent inactivation of CaV1.2 channels, suggesting genetic variant-tailored therapy for TS treatment.Ivy E. DickRosy Joshi-MukherjeeWanjun YangDavid T. YueNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Ivy E. Dick Rosy Joshi-Mukherjee Wanjun Yang David T. Yue Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
description	Timothy Syndrome (TS) is a multisystem disorder caused by two mutations leading to dysfunction of the CaV1.2 channel. Here, Dick et al. uncover a major and mechanistically divergent effect of both mutations on Ca2+/calmodulin-dependent inactivation of CaV1.2 channels, suggesting genetic variant-tailored therapy for TS treatment.
format	article
author	Ivy E. Dick Rosy Joshi-Mukherjee Wanjun Yang David T. Yue
author_facet	Ivy E. Dick Rosy Joshi-Mukherjee Wanjun Yang David T. Yue
author_sort	Ivy E. Dick
title	Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
title_short	Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
title_full	Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
title_fullStr	Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
title_full_unstemmed	Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation
title_sort	arrhythmogenesis in timothy syndrome is associated with defects in ca2+-dependent inactivation
publisher	Nature Portfolio
publishDate	2016
url	https://doaj.org/article/e30e38494b244ba9928aab1ec875756a
work_keys_str_mv	AT ivyedick arrhythmogenesisintimothysyndromeisassociatedwithdefectsinca2dependentinactivation AT rosyjoshimukherjee arrhythmogenesisintimothysyndromeisassociatedwithdefectsinca2dependentinactivation AT wanjunyang arrhythmogenesisintimothysyndromeisassociatedwithdefectsinca2dependentinactivation AT davidtyue arrhythmogenesisintimothysyndromeisassociatedwithdefectsinca2dependentinactivation
_version_	1718386751288901632

Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca2+-dependent inactivation

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