1 | DSC2, 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
|
2 | FXR1, 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
|
3 | ARVD9, 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
|
4 | PKP2
|
| 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
|
5 | ARVD9, 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
|
6 | CTTNBP2NL, 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
|
7 | ARVD9, 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
|
8 | ARVD9, 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
|
9 | PKP2
|
| 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
|
10 | PKP2
|
| 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
|
11 | PKP2
|
| 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
|
12 | PKP1, 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
|
13 | GJA1, 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
|
14 | ARVD9, 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
|
15 | DSP, 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
|
16 | CTNNA1, 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
|
17 | PKP2, 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
|
18 | ARVD9, 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
|
19 | PKP2
|
| 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
|
20 | PKP2
|
| 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
|
21 | PKP2, 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
|
22 | PKP1, PKP2, PKP3
|
| Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.
|
| Schmidt A, et al.
|
| Differentiation 64(5):291-306 1999
|
23 | ARVCF, 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
|
24 | PKP2
|
| 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
|
25 | APC, 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
|