A novel computational model of swine ventricular myocyte reveals new insights into disease mechanisms and therapeutic approaches in Timothy Syndrome

Abstract Timothy syndrome type 1 (TS1), a malignant variant of Long QT Syndrome, is caused by L-type Ca2+ Channel (LTCC) inactivation defects secondary to the p.Gly406Arg mutation in the CACNA1C gene. Leveraging on the experimental in vitro data from our TS1 knock-in swine model and their wild-type...

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Principais autores:	Alessandro Trancuccio, Carmen Tarifa, Rossana Bongianino, Silvia G. Priori, Demetrio J. Santiago
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Nature Portfolio 2024-11-01
Colecção:	Scientific Reports
Assuntos:	Mathematical Modeling Cardiac Electrophysiology Long QT Syndrome CACNA1C Swine Ventricular Myocyte
Acesso em linha:	https://doi.org/10.1038/s41598-024-80726-2
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