Moncayo Arlandi J, Guasch E, Sanz de la Garza M, Casado M, Garcia N, Mont L, et al
. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Hum Mol Genet. 2016;25:3676-3688 pubmed publisher
..Transgene dose is essential to reveal the pathology, whereas aging and endurance training trigger limited phenotype. Molecular abnormalities underlay the structural and electrophysiological defects. ..
Beltran Alvarez P, Tarradas A, Chiva C, PÃ©rez Serra A, Batlle M, PÃ©rez Villa F, et al
. Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart. J Mol Cell Cardiol. 2014;76:126-9 pubmed publisher
..Our results open the door to explore NaV1.5 N-terminal acetylation and arginine methylation levels as drivers or markers of end-stage heart failure. ..
Campuzano O, Brugada R. Age, Genetics, and Fibrosis in the Brugada Syndrome. J Am Coll Cardiol. 2015;66:1987-1989 pubmed publisher
Riuró H, Campuzano O, Arbelo E, Iglesias A, Batlle M, Perez Villa F, et al
. A missense mutation in the sodium channel ?1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome. Heart Rhythm. 2014;11:1202-9 pubmed publisher
Coll M, PÃ©rez Serra A, Mates J, Del Olmo B, PuigmulÃ© M, Fernandez Falgueras A, et al
. Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death. Biology (Basel). 2017;7: pubmed publisher
..Early identification of at-risk individuals is crucial to prevent a lethal episode. In this review, we will focus on the genetic basis of channelopathies and the effect of genetic and non-genetic modifiers on their phenotypes. ..