Alterations in cell adhesion proteins and cardiomyopathy

被引：15
作者：
Li, Jifen [1 ]
机构：
[1] Thomas Jefferson Univ, Jefferson Med Coll, Ctr Translat Med, Dept Med, Jeff Alumni Hall Suite 543,1020 Locus St, Philadelphia, PA 19107 USA
来源：
WORLD JOURNAL OF CARDIOLOGY | 2014年 / 6卷 / 05期
关键词：
Cardiomyopathy; Adherens junction; Desmosome; Intercalated disc; Arrhythmia;
D O I：
10.4330/wjc.v6.i5.304
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Cell adhesive junction is specialized intercellular structure composed of cell adhesion proteins. They are essential to connect adjacent heart muscle cell and make heart contraction effectively and properly. Clinical and genetic studies have revealed close relationship between cell adhesive proteins and the occurrence of various cardiomyopathies. Here we will review recent development on the disease phenotype, potential cellular and molecular mechanism related to cell adhesion molecules, with particular disease pathogenesis learned from genetic manipulated murine models. (C) 2014 Baishideng Publishing Group Inc. All rights reserved.
引用
收藏
页码：304 / 313
页数：10
相关论文
共 70 条
[1]   A novel dominant mutation in plakoglobin causes Arrhythmogenic right ventricular cardiomyopathy [J].
Asimaki, Angeliki ;
Syrris, Petros ;
Wichter, Thomas ;
Matthias, Paul ;
Saffitz, Jeffrey E. ;
McKenna, William J. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (05) :964-973
[2]   A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy. [J].
Asimaki, Angeliki ;
Tandri, Harikrishna ;
Huang, Hayden ;
Halushka, Marc K. ;
Gautam, Shiva ;
Basso, Cristina ;
Thiene, Gaetano ;
Tsatsopoulou, Adalena ;
Protonotarios, Nikos ;
McKenna, William J. ;
Calkins, Hugh ;
Saffitz, Jeffrey E. .
NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (11) :1075-1084
[3]   Arrhythmogenic right ventricular cardiomyopathy [J].
Basso, Cristina ;
Corrado, Domenico ;
Marcus, Frank I. ;
Nava, Andrea ;
Thiene, Gaetano .
LANCET, 2009, 373 (9671) :1289-1300
[4]   Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia [J].
Bauce, Barbara ;
Nava, Andrea ;
Beffagna, Giorgia ;
Basso, Cristina ;
Lorenzon, Alessandra ;
Smaniotto, Gessica ;
De Bortoli, Marzia ;
Rigato, Ilaria ;
Mazzotti, Elisa ;
Steriotis, Alexandros ;
Marra, Martina Perazzolo ;
Towbin, Jeffry A. ;
Thiene, Gaetano ;
Danieli, Gian Antonio ;
Rampazzo, Alessandra .
HEART RHYTHM, 2010, 7 (01) :22-29
[5]   Missense mutations in desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro [J].
Beffagna, Giorgia ;
De Bortoli, Marzia ;
Nava, Andrea ;
Salamon, Michela ;
Lorenzon, Alessandra ;
Zaccolo, Manuela ;
Mancuso, Luisa ;
Sigalotti, Luca ;
Bauce, Barbara ;
Occhi, Gianluca ;
Basso, Cristina ;
Lanfranchi, Gerolamo ;
Towbin, Jeffrey A. ;
Thiene, Gaetano ;
Danieli, Gian Antonio ;
Rampazzo, Alessandra .
BMC MEDICAL GENETICS, 2007, 8
[6]   Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients Results From a Multicenter Study [J].
Bhuiyan, Zahurul A. ;
Jongbloed, Jan D. H. ;
van der Smagt, Jasper ;
Lombardi, Paola M. ;
Wiesfeld, Ans C. P. ;
Nelen, Marcel ;
Schouten, Meyke ;
Jongbloed, Roselie ;
Cox, Moniek G. P. J. ;
van Wolferen, Marleen ;
Rodriguez, Luz M. ;
van Gelder, Isabelle C. ;
Bikker, Hennie ;
Suurmeijer, Albert J. H. ;
van den Berg, Maarten P. ;
Mannens, Marcel M. A. M. ;
Hauer, Richard N. W. ;
Wilde, Arthur A. M. ;
van Tintelen, J. Peter .
CIRCULATION-CARDIOVASCULAR GENETICS, 2009, 2 (05) :418-U22
[7]   The area composita of adhering junctions connecting heart muscle cells of vertebrates.: II.: Colocalizations of desmosomal and fascia adhaerens molecules in the intercalated disk [J].
Borrmann, Carola M. ;
Grund, Christine ;
Kuhn, Cacilia ;
Hofmann, Ilse ;
Pieperhoff, Sebastian ;
Franke, Werner W. .
EUROPEAN JOURNAL OF CELL BIOLOGY, 2006, 85 (06) :469-485
[8]   Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children [J].
Cabral, Rita M. ;
Liu, Lu ;
Hogan, Carol ;
Dopping-Hepenstal, Patricia J. C. ;
Winik, Beatriz C. ;
Asial, Raul A. ;
Dobson, Richard ;
Mein, Charles A. ;
Baselaga, Patricia A. ;
Mellerio, Jemima E. ;
Nanda, Arti ;
del Carmen Boente, Maria ;
Kelsell, David P. ;
McGrath, John A. ;
South, Andrew P. .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (06) :1543-1550
[9]   Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency [J].
Cerrone, Marina ;
Noorman, Maartje ;
Lin, Xianming ;
Chkourko, Halina ;
Liang, Feng-Xia ;
van der Nagel, Roel ;
Hund, Thomas ;
Birchmeier, Walter ;
Mohler, Peter ;
van Veen, Toon A. ;
van Rijen, Harold V. ;
Delmar, Mario .
CARDIOVASCULAR RESEARCH, 2012, 95 (04) :460-468
[10]   The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy [J].
Chen, Suet Nee ;
Gurha, Priyatansh ;
Lombardi, Raffaella ;
Ruggiero, Alessandra ;
Willerson, James T. ;
Marian, A. J. .
CIRCULATION RESEARCH, 2014, 114 (03) :454-468
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