Functional Consequences of the <i>SCN5A</i>-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice

Functional Consequences of the <i>SCN5A</i>-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice

Dysfunction of the cardiac sodium channel Nav1.5 (encoded by the <i>SCN5A</i> gene) is associated with arrhythmias and sudden cardiac death. <i>SCN5A</i> mutations associated with long QT syndrome type 3 (LQT3) lead to enhanced late sodium current and consequent action potent...

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Bibliographic Details
Main Authors: Simona Casini, Maxime Albesa, Zizun Wang, Vincent Portero, Daniela Ross-Kaschitza, Jean-Sébastien Rougier, Gerard A. Marchal, Wendy K. Chung, Connie R. Bezzina, Hugues Abriel, Carol Ann Remme
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:International Journal of Molecular Sciences
Subjects:
<i>scn5a</i>
ubiquitylation
long qt syndrome
sodium current
nedd4-2
action potential
patch-clamp
mouse model
Online Access:https://www.mdpi.com/1422-0067/20/20/5033

Internet

https://www.mdpi.com/1422-0067/20/20/5033

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