메뉴 건너뛰기




Volumn 8, Issue 5, 2011, Pages 711-718

A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions

Author keywords

Cardiomyopathy; Conduction; Connexin43; Desmocollin 2; Desmoglein 2; Desmosome; Functional studies; Gap junction; Mutation; Plakoglobin

Indexed keywords

CONNEXIN 4; DESMOCOLLIN; DESMOCOLLIN 2; DESMOGLEIN 2; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

EID: 79955397673     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2011.01.010     Document Type: Article
Times cited : (45)

References (33)
  • 1
    • 35348927451 scopus 로고    scopus 로고
    • Desmosomes: New perspectives on a classic
    • DOI 10.1038/sj.jid.5701015, PII 5701015
    • K.J. Green, and C.L. Simpson Desmosomes: new perspectives on a classic J Invest Dermatol 127 2007 2499 2515 (Pubitemid 47585074)
    • (2007) Journal of Investigative Dermatology , vol.127 , Issue.11 , pp. 2499-2515
    • Green, K.J.1    Simpson, C.L.2
  • 2
    • 33845690437 scopus 로고    scopus 로고
    • Discriminating roles of desmosomal cadherins: Beyond desmosomal adhesion
    • DOI 10.1016/j.jdermsci.2006.10.006, PII S0923181106003100
    • R.L. Dusek, L.M. Godsel, and K.J. Green Discriminating roles of desmosomal cadherins: beyond desmosomal adhesion J Dermatol Sci 45 2007 7 21 (Pubitemid 44969513)
    • (2007) Journal of Dermatological Science , vol.45 , Issue.1 , pp. 7-21
    • Dusek, R.L.1    Godsel, L.M.2    Green, K.J.3
  • 3
    • 0030856050 scopus 로고    scopus 로고
    • Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments
    • DOI 10.1074/jbc.272.34.21495
    • J.J. Meng, E.A. Bornslaeger, K.J. Green, P.M. Steinert, and W. Ip Two-hybrid analysis reveals fundamental differences in direct interactions between desmoplakin and cell type-specific intermediate filaments J Biol Chem 272 1997 21495 21503 (Pubitemid 27374023)
    • (1997) Journal of Biological Chemistry , vol.272 , Issue.34 , pp. 21495-21503
    • Meng, J.-J.1    Bornslaeger, E.A.2    Green, K.J.3    Steinert, P.M.4    Ip, W.5
  • 4
    • 35548936967 scopus 로고    scopus 로고
    • Broken hearts, woolly hair, and tattered skin: When desmosomal adhesion goes awry
    • DOI 10.1016/j.ceb.2007.08.001, PII S0955067407001184, Cell to Cell Contact and Extracellular Matrix
    • H. Bazzi, and A.M. Christiano Broken hearts, woolly hair, and tattered skin: when desmosomal adhesion goes awry Curr Opin Cell Biol 19 2007 515 520 (Pubitemid 350016849)
    • (2007) Current Opinion in Cell Biology , vol.19 , Issue.5 , pp. 515-520
    • Bazzi, H.1    Christiano, A.M.2
  • 5
    • 42649092901 scopus 로고    scopus 로고
    • Mechanisms of disease: Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • DOI 10.1038/ncpcardio1182, PII NCPCARDIO1182
    • M.M. Awad, H. Calkins, and D.P. Judge Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy Nat Clin Pract Cardiovasc Med 5 2008 258 267 (Pubitemid 351593909)
    • (2008) Nature Clinical Practice Cardiovascular Medicine , vol.5 , Issue.5 , pp. 258-267
    • Awad, M.M.1    Calkins, H.2    Judge, D.P.3
  • 6
    • 0028525019 scopus 로고
    • Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule
    • J.E. Lorimer, L.S. Hall, J.P. Clarke, J.E. Collins, T.P. Fleming, and D.R. Garrod Cloning, sequence analysis and expression pattern of mouse desmocollin 2 (DSC2), a cadherin-like adhesion molecule Mol Membr Biol 11 1994 229 236
    • (1994) Mol Membr Biol , vol.11 , pp. 229-236
    • Lorimer, J.E.1    Hall, L.S.2    Clarke, J.P.3    Collins, J.E.4    Fleming, T.P.5    Garrod, D.R.6
  • 7
    • 77953809581 scopus 로고    scopus 로고
    • The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
    • M. De Bortoli, G. Beffagna, and B. Bauce The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy Eur J Hum Genet 18 2010 776 782
    • (2010) Eur J Hum Genet , vol.18 , pp. 776-782
    • De Bortoli, M.1    Beffagna, G.2    Bauce, B.3
  • 8
    • 77957267604 scopus 로고    scopus 로고
    • The cardiac desmosome and arrhythmogenic cardiomyopathies: From gene to disease
    • M. Delmar, and W.J. McKenna The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease Circ Res 107 2010 700 714
    • (2010) Circ Res , vol.107 , pp. 700-714
    • Delmar, M.1    McKenna, W.J.2
  • 9
    • 0031765429 scopus 로고    scopus 로고
    • Diverse functions of vertebrate gap junctions
    • A.M. Simon, and D.A. Goodenough Diverse functions of vertebrate gap junctions Trends Cell Biol 8 1998 477 483
    • (1998) Trends Cell Biol , vol.8 , pp. 477-483
    • Simon, A.M.1    Goodenough, D.A.2
  • 12
    • 0032979852 scopus 로고    scopus 로고
    • Mechanisms of remodeling of gap junction distributions and the development of anatomic substrates of arrhythmias
    • DOI 10.1016/S0008-6363(99)00023-1, PII S0008636399000231
    • J.E. Saffitz, R.B. Schuessler, and K.A. Yamada Mechanisms of remodeling of gap junction distributions and the development of anatomic substrates of arrhythmias Cardiovasc Res 42 1999 309 317 (Pubitemid 29243159)
    • (1999) Cardiovascular Research , vol.42 , Issue.2 , pp. 309-317
    • Saffitz, J.E.1    Schuessler, R.B.2    Yamada, K.A.3
  • 13
    • 67651087158 scopus 로고    scopus 로고
    • Arrhythmogenic cardiomyopathy and abnormalities of cell-to-cell coupling
    • J.E. Saffitz Arrhythmogenic cardiomyopathy and abnormalities of cell-to-cell coupling Heart Rhythm 6 2009 S62 S65
    • (2009) Heart Rhythm , vol.6
    • Saffitz, J.E.1
  • 14
    • 77449145091 scopus 로고    scopus 로고
    • Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations
    • L.M. Fidler, G.J. Wilson, and F. Liu Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations J Cell Mol Med 13 2008 4219 4228
    • (2008) J Cell Mol Med , vol.13 , pp. 4219-4228
    • Fidler, L.M.1    Wilson, G.J.2    Liu, F.3
  • 15
    • 55449109130 scopus 로고    scopus 로고
    • Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation
    • H. Tandri, A. Asimaki, D. Dalal, J.E. Saffitz, M.K. Halushka, and H. Calkins Gap junction remodeling in a case of arrhythmogenic right ventricular dysplasia due to plakophilin-2 mutation J Cardiovasc Electrophysiol 19 2008 1212 1214
    • (2008) J Cardiovasc Electrophysiol , vol.19 , pp. 1212-1214
    • Tandri, H.1    Asimaki, A.2    Dalal, D.3    Saffitz, J.E.4    Halushka, M.K.5    Calkins, H.6
  • 16
    • 0031055039 scopus 로고    scopus 로고
    • Disturbed connexin43 gap junction distribution correlates with the location of reentrant circuits in the epicardial border zone of healing canine infarcts that cause ventricular tachycardia
    • N.S. Peters, J. Coromilas, N.J. Severs, and A.L. Wit Disturbed connexin43 gap junction distribution correlates with the location of reentrant circuits in the epicardial border zone of healing canine infarcts that cause ventricular tachycardia Circulation 95 1997 988 996 (Pubitemid 27091545)
    • (1997) Circulation , vol.95 , Issue.4 , pp. 988-996
    • Peters, N.S.1    Coromilas, J.2    Severs, N.J.3    Wit, A.L.4
  • 17
    • 75249096712 scopus 로고    scopus 로고
    • Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria
    • F.I. Marcus, W.J. McKenna, and D. Sherrill Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria Circulation 121 2010 1533 1541
    • (2010) Circulation , vol.121 , pp. 1533-1541
    • Marcus, F.I.1    McKenna, W.J.2    Sherrill, D.3
  • 18
    • 0031692115 scopus 로고    scopus 로고
    • Characteristics of sinus rhythm electrograms at sites of ablation of ventricular tachycardia relative to all other sites: A noncontact mapping study of the entire left ventricle
    • R.J. Schilling, D.W. Davies, and N.S. Peters Characteristics of sinus rhythm electrograms at sites of ablation of ventricular tachycardia relative to all other sites: a noncontact mapping study of the entire left ventricle J Cardiovasc Electrophysiol 9 1998 921 933 (Pubitemid 28455962)
    • (1998) Journal of Cardiovascular Electrophysiology , vol.9 , Issue.9 , pp. 921-933
    • Schilling, R.J.1    Davies, D.W.2    Peters, N.S.3
  • 19
    • 0035979397 scopus 로고    scopus 로고
    • Relationship between sinus rhythm activation and the reentrant ventricular tachycardia isthmus
    • E.J. Ciaccio, A.C. Tosti, and M.M. Scheinman Relationship between sinus rhythm activation and the reentrant ventricular tachycardia isthmus Circulation 104 2001 613 619 (Pubitemid 32738134)
    • (2001) Circulation , vol.104 , Issue.5 , pp. 613-619
    • Ciaccio, E.J.1    Tosti, A.C.2    Scheinman, M.M.3
  • 20
    • 65649087156 scopus 로고    scopus 로고
    • Prolonged RV endocardial activation duration: A novel marker of arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • H. Tandri, A. Asimaki, and T. Abraham Prolonged RV endocardial activation duration: a novel marker of arrhythmogenic right ventricular dysplasia/cardiomyopathy Heart Rhythm 6 2009 769 775
    • (2009) Heart Rhythm , vol.6 , pp. 769-775
    • Tandri, H.1    Asimaki, A.2    Abraham, T.3
  • 21
    • 67651097488 scopus 로고    scopus 로고
    • High-density substrate mapping in Brugada syndrome: Combined role of conduction and repolarization heterogeneities in arrhythmogenesis
    • P.D. Lambiase, A.K. Ahmed, and E.J. Ciaccio High-density substrate mapping in Brugada syndrome: combined role of conduction and repolarization heterogeneities in arrhythmogenesis Circulation 120 2009 106 117
    • (2009) Circulation , vol.120 , pp. 106-117
    • Lambiase, P.D.1    Ahmed, A.K.2    Ciaccio, E.J.3
  • 22
    • 74549189072 scopus 로고    scopus 로고
    • New ECG criteria in arrhythmogenic right ventricular dysplasia/ cardiomyopathy
    • M.G. Cox, J.J. van der Smagt, and A.A. Wilde New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy Circ Arrhythm Electrophysiol 2 2009 524 530
    • (2009) Circ Arrhythm Electrophysiol , vol.2 , pp. 524-530
    • Cox, M.G.1    Van Der Smagt, J.J.2    Wilde, A.A.3
  • 23
    • 62349094053 scopus 로고    scopus 로고
    • A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy
    • A. Asimaki, H. Tandri, and H. Huang A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy N Engl J Med 360 2009 1075 1084
    • (2009) N Engl J Med , vol.360 , pp. 1075-1084
    • Asimaki, A.1    Tandri, H.2    Huang, H.3
  • 24
    • 64249170988 scopus 로고    scopus 로고
    • Connexin43 phosphorylation: Structural changes and biological effects
    • J.L. Solan, and P.D. Lampe Connexin43 phosphorylation: structural changes and biological effects Biochem J 419 2009 261 272
    • (2009) Biochem J , vol.419 , pp. 261-272
    • Solan, J.L.1    Lampe, P.D.2
  • 27
    • 79952837956 scopus 로고    scopus 로고
    • Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations
    • K. Gehmlich, P. Syrris, and E. Peskett Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations Cardiovasc Res 90 2010 77 87
    • (2010) Cardiovasc Res , vol.90 , pp. 77-87
    • Gehmlich, K.1    Syrris, P.2    Peskett, E.3
  • 28
    • 66149101609 scopus 로고    scopus 로고
    • Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy
    • R. Lombardi, J. Dong, and G. Rodriguez Genetic fate mapping identifies second heart field progenitor cells as a source of adipocytes in arrhythmogenic right ventricular cardiomyopathy Circ Res 104 2009 1076 1084
    • (2009) Circ Res , vol.104 , pp. 1076-1084
    • Lombardi, R.1    Dong, J.2    Rodriguez, G.3
  • 29
    • 77953809581 scopus 로고    scopus 로고
    • The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy
    • M. De Bortoli, G. Beffagna, and B. Bauce The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy Eur J Hum Genet 18 2010 776 782
    • (2010) Eur J Hum Genet , vol.18 , pp. 776-782
    • De Bortoli, M.1    Beffagna, G.2    Bauce, B.3
  • 30
    • 74949132242 scopus 로고    scopus 로고
    • Limited forward trafficking of connexin 43 reduces cell-cell coupling in stressed human and mouse myocardium
    • J.W. Smyth, T.T. Hong, and D. Gao Limited forward trafficking of connexin 43 reduces cell-cell coupling in stressed human and mouse myocardium J Clin Invest 120 2010 266 279
    • (2010) J Clin Invest , vol.120 , pp. 266-279
    • Smyth, J.W.1    Hong, T.T.2    Gao, D.3
  • 31
    • 77950993997 scopus 로고    scopus 로고
    • Ultrastructure and regulation of lateralized connexin43 in the failing heart
    • G.G. Hesketh, M.H. Shah, and V.L. Halperin Ultrastructure and regulation of lateralized connexin43 in the failing heart Circ Res 106 2010 1153 1163
    • (2010) Circ Res , vol.106 , pp. 1153-1163
    • Hesketh, G.G.1    Shah, M.H.2    Halperin, V.L.3
  • 32
    • 34848820956 scopus 로고    scopus 로고
    • Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells
    • DOI 10.1161/CIRCRESAHA.107.154252, PII 0000301220070928000012
    • E.M. Oxford, H. Musa, K. Maass, W. Coombs, S.M. Taffet, and M. Delmar Connexin43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells Circ Res 101 2007 703 711 (Pubitemid 47494101)
    • (2007) Circulation Research , vol.101 , Issue.7 , pp. 703-711
    • Oxford, E.M.1    Musa, H.2    Maass, K.3    Coombs, W.4    Taffet, S.M.5    Delmar, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.