Article
Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias.
Circulation research - 2 Mar 2012
Denegri Marco, Avelino-Cruz José Everardo, Boncompagni Simona, De Simone Stefano Andrea, Auricchio Alberto, Villani Laura, Volpe Pompeo, Protasi Feliciano, Napolitano Carlo, Priori Silvia Giuliana
Abstract excerpt
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia is an inherited disease that predisposes to cardiac arrest and sudden death. The disease is associated with mutations in the genes encoding for the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2). CASQ2 mutations lead to a major loss of CASQ2 monomers, possibly because of enhanced degradation of the mutant protein. The decrease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
