Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Roux-Buisson, Nathalie; Cacheux, Marine; Fourest-Lieuvin, Anne; Fauconnier, Jeremy; Brocard, Julie; Denjoy, Isabelle; Durand, Philippe; Guicheney, Pascale; Kyndt, Florence; Leenhardt, Antoine; Le Marec, Hervé; Lucet, Vincent; Mabo, Philippe; Probst, Vincent; Monnier, Nicole; Ray, Pierre F; Santoni, Elodie; Trémeaux, Pauline; Lacampagne, Alain; Fauré, Julien; Lunardi, Joël; Marty, Isabelle.
Hum Mol Genet
; 21(12): 2759-67, 2012 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-22422768
Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias.
Conditional knockout of Fgf13 in murine hearts increases arrhythmia susceptibility and reveals novel ion channel modulatory roles.
The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age.
The Arrhythmogenic Calmodulin Mutation D129G Dysregulates Cell Growth, Calmodulin-dependent Kinase II Activity, and Cardiac Function in Zebrafish.
Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function.
The cardiac ryanodine receptor luminal Ca2+ sensor governs Ca2+ waves, ventricular tachyarrhythmias and cardiac hypertrophy in calsequestrin-null mice.
Identification of rare variants in cardiac sodium channel ß4-subunit gene SCN4B associated with ventricular tachycardia.
Ion Channel Disorders and Sudden Cardiac Death.
Chain-reaction Ca(2+) signaling in the heart.