Genomes and Genes
Gene Symbol: Pkp2
Description: plakophilin 2
Alias: 1200008D14Rik, 1200012P04Rik, AA516617, Pkp2l, plakophilin-2
- Cerrone M, Lin X, Zhang M, Agullo Pascual E, Pfenniger A, Chkourko Gusky H, et al. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation. 2014;129:1092-103 pubmed publisher..Experimental models showed correlation between the loss of expression of desmosomal protein plakophilin-2 (PKP2) and reduced INa...
- Dubash A, Kam C, Aguado B, Patel D, Delmar M, Shea L, et al. Plakophilin-2 loss promotes TGF-β1/p38 MAPK-dependent fibrotic gene expression in cardiomyocytes. J Cell Biol. 2016;212:425-38 pubmed publisher..In this study, we provide evidence that loss of the desmosomal armadillo protein Plakophilin-2 (PKP2) in cardiomyocytes elevates transforming growth factor β1 (TGF-β1) and p38 mitogen-activated protein kinase (MAPK)..
- Moncayo Arlandi J, Guasch E, Sanz de la Garza M, Casado M, Garcia N, Mont L, et al. Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model. Hum Mol Genet. 2016;25:3676-3688 pubmed publisher..Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for?>40% of all known mutations, generally causing a truncated protein...
- Gurha P, Chen X, Lombardi R, Willerson J, Marian A. Knockdown of Plakophilin 2 Downregulates miR-184 Through CpG Hypermethylation and Suppression of the E2F1 Pathway and Leads to Enhanced Adipogenesis In Vitro. Circ Res. 2016;119:731-50 pubmed publisherPKP2, encoding plakophilin 2 (PKP2), is the most common causal gene for arrhythmogenic cardiomyopathy. To characterize miRNA expression profile in PKP2-deficient cells...
- Cerrone M, Montnach J, Lin X, Zhao Y, Zhang M, Agullo Pascual E, et al. Plakophilin-2 is required for transcription of genes that control calcium cycling and cardiac rhythm. Nat Commun. 2017;8:106 pubmed publisher..It is believed that mutations in desmosomal adhesion complex protein plakophilin 2 (PKP2) cause arrhythmia due to loss of cell-cell communication...