ClinicalGeneticA novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions
Genetic
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open access
Keywords
Cardiomyopathy
Conduction
Connexin43
Desmocollin-2
Desmoglein-2
Desmosome
Functional studies
Gap junction
Mutation
Plakoglobin
Abbreviations
ARVC
arrhythmogenic right ventricular cardiomyopathy
Cx43
connexin43
DAPI
4′,6-diamidino-2-phenylindole
DSC2
desmocollin-2
DSG2
desmoglein-2
DSP
desmoplakin
GFP
green fluorescent protein
GST
glutathione-S-transferase
ICS
intracellular cadherin segment
PG
plakoglobin
PKP2
plakophilin-2
RV
right ventricle
YFP
yellow fluorescent protein
Cited by (0)
This work was supported by British Heart Foundation Programme Grant RG/04/010 to Drs. Gehmlich, Syrris, and McKenna and Project Grant PG/05/112 to Dr. Lambiase; the Heart Rhythm Society to Dr. Asimaki; and National Institutes of Health Grant HL102361 to Dr. Saffitz. Part of this work was undertaken at University College London/Hospital, which received a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centre. Dr. Gehmlich's present address is Department of Cardiovascular Medicine, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom.
Copyright © 2011 Heart Rhythm Society. Published by Elsevier Inc.