Genetics of sudden death: focus on inherited channelopathies
M Cerrone, SG Priori - European heart journal, 2011 - academic.oup.com
Since the discovery of the genetic bases of the long QT syndrome, several new genetically
mediated arrhythmias have been described, defining a new group of syndromes, called …
mediated arrhythmias have been described, defining a new group of syndromes, called …
Beyond the one gene–one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders
Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …
often associated with increased risk of sudden death in the young. Early linkage analysis …
[HTML][HTML] Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome
E Agullo-Pascual, M Cerrone, M Delmar - FEBS letters, 2014 - Elsevier
This review summarizes data in support of the notion that the cardiac intercalated disc is the
host of a protein interacting network, called “the connexome”, where molecules classically …
host of a protein interacting network, called “the connexome”, where molecules classically …
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome
PJ Schwartz, SG Priori, M Cerrone, C Spazzolini… - Circulation, 2004 - Am Heart Assoc
Background—The management of long-QT syndrome (LQTS) patients who continue to have
cardiac events (CEs) despite β-blockers is complex. We assessed the long-term efficacy of …
cardiac events (CEs) despite β-blockers is complex. We assessed the long-term efficacy of …
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice
ContextIn long QT syndrome (LQTS), disease severity and response to therapy vary
according to the genetic loci. There exists a critical need to devise strategies to expedite …
according to the genetic loci. There exists a critical need to devise strategies to expedite …
Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor
M Cerrone, B Colombi, M Santoro… - Circulation …, 2005 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease
characterized by adrenergically mediated polymorphic ventricular tachycardia leading to …
characterized by adrenergically mediated polymorphic ventricular tachycardia leading to …
Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype
M Cerrone, X Lin, M Zhang, E Agullo-Pascual… - Circulation, 2014 - Am Heart Assoc
Background—Brugada syndrome (BrS) primarily associates with the loss of sodium channel
function. Previous studies showed features consistent with sodium current (I Na) deficit in …
function. Previous studies showed features consistent with sodium current (I Na) deficit in …
Arrhythmogenic mechanisms in a mouse model of catecholaminergic polymorphic ventricular tachycardia
M Cerrone, SF Noujaim, EG Tolkacheva… - Circulation …, 2007 - Am Heart Assoc
Catecholaminergic polymorphic ventricular tachycardia (VT) is a lethal familial disease
characterized by bidirectional VT, polymorphic VT, and ventricular fibrillation …
characterized by bidirectional VT, polymorphic VT, and ventricular fibrillation …
Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency
M Cerrone, M Noorman, X Lin… - Cardiovascular …, 2012 - academic.oup.com
Aims The shRNA-mediated loss of expression of the desmosomal protein plakophilin-2
leads to sodium current (INa) dysfunction. Whether pkp2 gene haploinsufficiency leads to …
leads to sodium current (INa) dysfunction. Whether pkp2 gene haploinsufficiency leads to …
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …