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

Ivy E. Dick; Rosy Joshi-Mukherjee; Wanjun Yang; David T. Yue

doi:10.1038/ncomms10370

Nature Communications (Jan 2016)

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

Ivy E. Dick,
Rosy Joshi-Mukherjee,
Wanjun Yang,
David T. Yue

Affiliations

Ivy E. Dick: Departments of Biomedical Engineering and Neuroscience, Calcium Signals Laboratory, The Johns Hopkins University School of Medicine
Rosy Joshi-Mukherjee: Departments of Biomedical Engineering and Neuroscience, Calcium Signals Laboratory, The Johns Hopkins University School of Medicine
Wanjun Yang: Departments of Biomedical Engineering and Neuroscience, Calcium Signals Laboratory, The Johns Hopkins University School of Medicine
David T. Yue: Departments of Biomedical Engineering and Neuroscience, Calcium Signals Laboratory, The Johns Hopkins University School of Medicine

DOI: https://doi.org/10.1038/ncomms10370
Journal volume & issue: Vol. 7, no. 1
pp. 1 – 12

Abstract

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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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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