TMEM43 Mutation p.S358L Alters Intercalated Disc Protein Expression and Reduces Conduction Velocity in Arrhythmogenic Right Ventricular Cardiomyopathy

Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology

(2014) Werner W. Franke et al.   CELL AND TISSUE RESEARCH

Missense Mutations in Plakophilin-2 Can Cause Brugada Syndrome Phenotype By Decreasing Sodium Current and Nav1.5 Membrane Localization

(2013) M. Cerrone et al.   HEART RHYTHM

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

(2012) Revathi Rajkumar et al.   BMC Medical Genetics

Electrophysiological Effects of Lysophosphatidylcholine on HL-1 Cardiomyocytes Assessed with a Microelectrode Array System

(2012) Sigfus Gizurarson et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Actin Cytoskeleton Rest Stops Regulate Anterograde Traffic of Connexin 43 Vesicles to the Plasma Membrane

(2012) James W. Smyth et al.   CIRCULATION RESEARCH

Abnormal Termination of Ca 2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Scope and nature of sudden cardiac death before age 40 in Ontario: A report from the Cardiac Death Advisory Committee of the Office of the Chief Coroner

(2012) Caileigh M. Pilmer et al.   HEART RHYTHM

The LINC complex and human disease

(2011) Peter Meinke et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Connexin43 phosphorylation in brain, cardiac, endothelial and epithelial tissues

(2011) Lucrecia Márquez-Rosado et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy

(2011) AH Christensen et al.   CLINICAL GENETICS

Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes

(2011) Oxana E. Nekrasova et al.   JOURNAL OF CELL BIOLOGY

Connexin 43 connexon to gap junction transition is regulated by zonula occludens-1

(2011) J. Matthew Rhett et al.   MOLECULAR BIOLOGY OF THE CELL

TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy

(2010) Wen-Chen Liang et al.   ANNALS OF NEUROLOGY

Abnormal atrial activation is common in patients with arrhythmogenic right ventricular cardiomyopathy

(2010) Pyotr G. Platonov et al.   JOURNAL OF ELECTROCARDIOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Atrial local Ca2+ signaling and inositol 1,4,5-trisphosphate receptors

(2010) Joon-Chul Kim et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Connexin43 phosphorylation: structural changes and biological effects

(2009) Joell L. Solan et al.   BIOCHEMICAL JOURNAL

Loss of Plakophilin-2 Expression Leads to Decreased Sodium Current and Slower Conduction Velocity in Cultured Cardiac Myocytes

(2009) Priscila Y. Sato et al.   CIRCULATION RESEARCH

Arrhythmogenic cardiomyopathy and abnormalities of cell-to-cell coupling

(2009) Jeffrey E. Saffitz   HEART RHYTHM

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Angeliki Asimaki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Electrogram fractionation in murine HL-1 atrial monolayer model

(2008) Karthikeyan Umapathy et al.   HEART RHYTHM

Right atrial abnormalities in a patient with arrhythmogenic right ventricular cardiomyopathy without ventricular tachycardia

(2008) Naoki Takemura et al.   Journal of Cardiology

Gap Junction Remodeling in a Case of Arrhythmogenic Right Ventricular Dysplasia Due to Plakophilin-2 Mutation

(2008) HARIKRISHNA TANDRI et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

LUMA interacts with emerin and influences its distribution at the inner nuclear membrane

(2008) Luiza Bengtsson et al.   JOURNAL OF CELL SCIENCE

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations

(2008) Lee M. Fidler et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Adherens and tight junctions: Structure, function and connections to the actin cytoskeleton

(2007) Andrea Hartsock et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES