Citations for
1DSC2, PKP2, PKP3
Desmocollin-2 alone forms functional desmosomal plaques, with the plaque formation requiring the juxtamembrane region and plakophilins.
Fujiwara M, Nagatomo A, Tsuda M, Obata S, Sakuma T, Yamamoto T, Suzuki ST.
J Biochem 158(4):339-53. doi: 10.1093/jb/mvv048. Epub 2015 May 13. 2015
2FXR1, PKP1, PKP2, PKP3
Plakophilins 1 and 3 bind to FXR1 and thereby influence the mRNA stability of desmosomal proteins.
Fischer-Kešo R, Breuninger S, Hofmann S, Henn M, Röhrig T, Ströbel P, Stoecklin G, Hofmann I.
Mol Cell Biol 34(23):4244-56. doi: 10.1128/MCB.00766-14. Epub 2014 Sep 15. 2014
3ARVD9, PKP2
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Luisa Mostacciuolo M, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A.
Eur J Hum Genet 21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13. 2013
4PKP2
Missense mutations in plakophilin-2 can cause brugada syndrome phenotype by decreasing sodium current and nav1.5 membrane localization.
Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, Novelli V, Kim C, Tirasawadischai T, Judge DP, Rothenberg E, Chen HV, Napolitano C, Priori SG, Delmar M.
Heart Rhythm 10(11):1743. doi: 10.1016/j.hrthm.2013.09.019. Epub 2013 Oct 24. 2013
5ARVD9, PKP2
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy.
Roberts JD, Herkert JC, Rutberg J, Nikkel SM, Wiesfeld AC, Dooijes D, Gow RM, van Tintelen JP, Gollob MH.
Clin Genet 83(5):452-6. doi: 10.1111/j.1399-0004.2012.01950.x. Epub 2012 Sep 10. 2013
6CTTNBP2NL, PKP2
Genetic variants related to gap junctions and hormone secretion influence conception rates in cows.
Sugimoto M, Sasaki S, Gotoh Y, Nakamura Y, Aoyagi Y, Kawahara T, Sugimoto Y.
Proc Natl Acad Sci U S A 110(48):19495-500. doi: 10.1073/pnas.1309307110. Epub 2013 Nov 11. 2013
7ARVD9, PKP2
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation.
van der Smagt JJ, van der Zwaag PA, van Tintelen JP, Cox MG, Wilde AA, van Langen IM, Ummels A, Hennekam FA, Dooijes D, Gerbens F, Bikker H, Hauer RN, Doevendans PA.
Cardiology 123(3):181-9. doi: 10.1159/000342717. Epub 2012 Nov 7. 2012
8ARVD9, PKP2
A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy.
Ostrowska Dahlgren B, Allen M, Lindström AC, Bjerke M, Blomström-Lundqvist C.
J Interv Card Electrophysiol 34(1):11-8. doi: 10.1007/s10840-011-9643-4. Epub 2011 Dec 15. 2012
9PKP2
Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy.
Gandjbakhch E, Charron P, Fressart V, Lorin de la Grandmaison G, Simon F, Gary F, Vite A, Hainque B, Hidden-Lucet F, Komajda M, Villard E.
Heart 97(10):844-9. doi: 10.1136/hrt.2010.205880. Epub 2011 Mar 3. 2011
10PKP2
A novel kind of tumor type-characteristic junction: plakophilin-2 as a major protein of adherens junctions in cardiac myxomata.
Rickelt S, Rizzo S, Doerflinger Y, Zentgraf H, Basso C, Gerosa G, Thiene G, Moll R, Franke WW.
Mod Pathol 23(11):1429-37. doi: 10.1038/modpathol.2010.138. Epub 2010 Aug 6. 2010
11PKP2
Plakophilin 2 couples actomyosin remodeling to desmosomal plaque assembly via RhoA.
Godsel LM, Dubash AD, Bass-Zubek AE, Amargo EV, Klessner JL, Hobbs RP, Chen X, Green KJ.
Mol Biol Cell 21(16):2844-59. doi: 10.1091/mbc.E10-02-0131. Epub 2010 Jun 16. Erratum in: Mol Biol Cell. 2010 Oct 15;21(20):3615. 2010
12PKP1, PKP2
Plakophilin-1 localizes to the nucleus and interacts with single-stranded DNA.
Sobolik-Delmaire T, Reddy R, Pashaj A, Roberts BJ, Wahl JK 3rd.
J Invest Dermatol 130(11):2638-46. doi: 10.1038/jid.2010.191. Epub 2010 Jul 8. 2010
13GJA1, PKP2
Connexin 43 and plakophilin-2 as a protein complex that regulates blood-testis barrier dynamics.
Li MW, Mruk DD, Lee WM, Cheng CY.
Proc Natl Acad Sci U S A 106(25):10213-8. Epub 2009 Jun 9. 2009
14ARVD9, PKP2
Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.
Lahtinen AM, Lehtonen A, Kaartinen M, Toivonen L, Swan H, Widén E, Lehtonen E, Lehto VP, Kontula K.
Int J Cardiol 126(1):92-100. Epub 2007 May 22.PMID: 17521752 2008
15DSP, PKP2
Plakophilin 2: a critical scaffold for PKC alpha that regulates intercellular junction assembly.
Bass-Zubek AE, Hobbs RP, Amargo EV, Garcia NJ, Hsieh SN, Chen X, Wahl JK 3rd, Denning MF, Green KJ.
J Cell Biol 181(4):605-13. Epub 2008 May 12.PMID: 18474624 2008
16CTNNA1, CTNNA3, PKP2
A unique and specific interaction between alphaT-catenin and plakophilin-2 in the area composita, the mixed-type junctional structure of cardiac intercalated discs.
Goossens S, Janssens B, Bonné S, De Rycke R, Braet F, van Hengel J, van Roy F.
J Cell Sci 120(Pt 12):2126-36. Epub 2007 May 29.PMID: 17535849 2007
17PKP2, ARVD9
Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.
Nagaoka I, Matsui K, Ueyama T, Kanemoto M, Wu J, Shimizu A, Matsuzaki M, Horie M.
Circ J 70(7):933-5. 2006
18ARVD9, PKP2
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L.
Nat Genet 36(11):1162-4. Epub 2004 Oct 17. 2004
19PKP2
Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.
Grossmann KS, Grund C, Huelsken J, Behrend M, Erdmann B, Franke WW, Birchmeier W.
J Cell Biol 167(1):149-60. 2004
20PKP2
Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.
Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ.
J Biol Chem 277(12):10512-22. 2002
21PKP2, PKP2P1
Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.
Bonne S, van Hengel J, van Roy F.
Cytogenet Cell Genet 88(3-4):286-7. No abstract available. 2000
22PKP1, PKP2, PKP3
Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.
Schmidt A, et al.
Differentiation 64(5):291-306 1999
23ARVCF, CTNND1, CTNND2, PKP4, PKP1, PKP2
Chromosomal mapping of human armadillo genes belonging to the p120ctn/plakophilin subfamily.
BonnŽ S, et al.
Genomics 51 : 452-454. 1998
24PKP2
Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.
Mertens C, Kuhn C, Franke WW.
J Cell Biol 135(4):1009-25. 1996
25APC, CTNNB1, CTNND1, JUP, KPNA3, ARVCF, CTNND2, KPNA2, PKP4, PKP1, PKP2, SPAG6
A repeating amino acid motif shared by proteins with diverse cellular roles.
Peifer M, et al.
Cell 76(5):789-91. No abstract available 1994