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Article

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

Scientific reports - 30 Nov 2024

Trancuccio Alessandro, Tarifa Carmen, Bongianino Rossana, Priori Silvia G, Santiago Demetrio J

Abstract excerpt

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 (WT) littermates, we first developed a mathematical model of WT large white swine ventricular cardiomyocyte electrophysiology...

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Identifiers

PMID: 39616198
DOI: 10.1038/s41598-024-80726-2
PMCID: PMC11608236

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