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Functional Consequences of the SCN5A-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 SCN5A gene) is associated with arrhythmias and sudden cardiac death. SCN5A mutations associated with long QT syndrome type 3 (LQT3) lead to enhanced late sodium current and consequent action potential (AP) prolongation. Internalization...

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Detalles Bibliográficos
Autores principales: Casini, Simona, Albesa, Maxime, Wang, Zizun, Portero, Vincent, Ross-Kaschitza, Daniela, Rougier, Jean-Sébastien, Marchal, Gerard A., Chung, Wendy K., Bezzina, Connie R., Abriel, Hugues, Remme, Carol Ann
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829230/
https://www.ncbi.nlm.nih.gov/pubmed/31614475
http://dx.doi.org/10.3390/ijms20205033