Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome.

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Published in Nat Rev Cardiol on July 13, 2017

Authors

Javier Moncayo-Arlandi1, Ramon Brugada2

Author Affiliations

1: Cardiovascular Genetics Centre, Girona Institute of Biomedical Research (IDIBGI), Carrer del Dr. Castany, s/n, 17190 Salt, Girona, Spain.
2: Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica Girona (IDIBGI), University of Girona, Carrer del Dr. Castany, s/n, Parc Hospitalari Martí i Julià (M-2), 17190 Salt, Girona, Spain; the Medical Science Department, School of Medicine, University of Girona, Plaça de Sant Domènec, 3, 17004 Girona, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Avenida Monforte de Lemos, 3-5, 28029 Madrid, Spain; and the Cardiology Service, Hospital Josep Trueta, Avinguda de França, s/n, 17007 Girona, Girona, Spain.

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Transforming growth factor beta signaling in adult cardiovascular diseases and repair. Cell Tissue Res (2011) 1.10

Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model. Biochim Biophys Acta (2012) 1.05

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Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions. J Cell Biol (2014) 1.02

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ Arrhythm Electrophysiol (2012) 1.02

Genetics and cardiac channelopathies. Genet Med (2010) 1.00

The perinexus: a new feature of Cx43 gap junction organization. Heart Rhythm (2011) 1.00

Deletion of the last five C-terminal amino acid residues of connexin43 leads to lethal ventricular arrhythmias in mice without affecting coupling via gap junction channels. Basic Res Cardiol (2013) 1.00

Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome. Circ Arrhythm Electrophysiol (2008) 0.99

Super-resolution fluorescence microscopy of the cardiac connexome reveals plakophilin-2 inside the connexin43 plaque. Cardiovasc Res (2013) 0.98

Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes. J Cell Biol (2011) 0.98

Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome. FEBS Lett (2014) 0.97

Sodium channels in the Cx43 gap junction perinexus may constitute a cardiac ephapse: an experimental and modeling study. Pflugers Arch (2015) 0.97

Ordered assembly of the adhesive and electrochemical connections within newly formed intercalated disks in primary cultures of adult rat cardiomyocytes. J Biomed Biotechnol (2010) 0.96

Desmosome assembly and dynamics. Trends Cell Biol (2013) 0.96

Assembly of the cardiac intercalated disk during pre- and postnatal development of the human heart. PLoS One (2014) 0.95

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet (2015) 0.94

Genetics of Brugada syndrome. J Hum Genet (2015) 0.94