Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
Top Cited Papers
- 17 October 2004
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 36 (11) , 1162-1164
- https://doi.org/10.1038/ng1461
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias and sudden cardiac death. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. In two kindreds with ARVC, disease was incompletely penetrant in most carriers of PKP2 mutations.Keywords
This publication has 14 references indexed in Scilit:
- Genetics of arrhythmogenic right ventricular cardiomyopathy - status quo and future perspectivesClinical Research in Cardiology, 2003
- Desmosomal cadherinsCurrent Opinion in Cell Biology, 2002
- Intercellular adhesion, signalling and the cytoskeletonNature Cell Biology, 2002
- Protein Binding and Functional Characterization of Plakophilin 2Journal of Biological Chemistry, 2002
- Cadherins Mediate Intercellular Mechanical Signaling in Fibroblasts by Activation of Stretch-sensitive Calcium-permeable ChannelsJournal of Biological Chemistry, 2001
- Nuclear particles containing RNA polymerase III complexes associated with the junctional plaque protein plakophilin 2Proceedings of the National Academy of Sciences, 2001
- Are desmosomes more than tethers for intermediate filaments?Nature Reviews Molecular Cell Biology, 2000
- Arrhythmogenic Right Ventricular DysplasiaAnnual Review of Medicine, 1999
- ARVD4, a New Locus for Arrhythmogenic Right Ventricular Cardiomyopathy, Maps to Chromosome 2 Long ArmGenomics, 1997
- Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.The Journal of cell biology, 1996