{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["28(1)"],"submitter":["Cacheux M"],"funding":["Centre National de la Recherche Scientifique","Institut National de la Santé et de la Recherche Médicale","Association Française contre les Myopathies","AFM-Téléthon"],"pubmed_abstract":["Recessive forms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are induced by mutations in genes encoding triadin or calsequestrin, two proteins that belong to the Ca<sup>2+</sup> release complex, responsible for intracellular Ca<sup>2+</sup> release triggering cardiac contractions. To better understand the mechanisms of triadin-induced CPVT and to assay multiple therapeutic interventions, we used a triadin knockout mouse model presenting a CPVT-like phenotype associated with a decrease in calsequestrin protein level. We assessed different approaches to rescue protein expression and to correct intracellular Ca<sup>2+</sup> release and cardiac function: pharmacological treatment with kifunensine or a viral gene transfer-based approach, using adeno-associated virus serotype "],"journal":["Molecular therapy : the journal of the American Society of Gene Therapy"],"pagination":["171-179"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6952166"],"repository":["biostudies-literature"],"pubmed_title":["Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse."],"pmcid":["PMC6952166"],"pubmed_authors":["Cacheux M","Brocard J","Fauconnier J","Thireau J","Faure J","Osseni A","Roux-Buisson N","Lacampagne A","Marty I"],"additional_accession":[]},"is_claimable":false,"name":"Interplay between Triadin and Calsequestrin in the Pathogenesis of CPVT in the Mouse.","description":"Recessive forms of catecholaminergic polymorphic ventricular tachycardia (CPVT) are induced by mutations in genes encoding triadin or calsequestrin, two proteins that belong to the Ca<sup>2+</sup> release complex, responsible for intracellular Ca<sup>2+</sup> release triggering cardiac contractions. To better understand the mechanisms of triadin-induced CPVT and to assay multiple therapeutic interventions, we used a triadin knockout mouse model presenting a CPVT-like phenotype associated with a decrease in calsequestrin protein level. We assessed different approaches to rescue protein expression and to correct intracellular Ca<sup>2+</sup> release and cardiac function: pharmacological treatment with kifunensine or a viral gene transfer-based approach, using adeno-associated virus serotype ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Jan","modification":"2026-04-18T19:08:22.179Z","creation":"2025-05-29T20:01:41.217Z"},"accession":"S-EPMC6952166","cross_references":{"pubmed":["31607542"],"doi":["10.1016/j.ymthe.2019.09.012"]}}