Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity

Dilated cardiomyopathy (DCM) associates left ventricular (LV) dilatation and systolic dysfunction and is a major cause of heart failure and cardiac transplantation. LMNA gene encodes lamins A/C, proteins of the nuclear envelope. LMNA mutations cause DCM with conduction and/or rhythm defects. The pat...

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Veröffentlicht in:	Human molecular genetics 2013-08, Vol.22 (15), p.3152-3164
Hauptverfasser:	Cattin, Marie-Elodie, Bertrand, Anne T, Schlossarek, Saskia, Le Bihan, Marie-Catherine, Skov Jensen, Søren, Neuber, Christiane, Crocini, Claudia, Maron, Sophia, Lainé, Jeanne, Mougenot, Nathalie, Varnous, Shaïda, Fromes, Yves, Hansen, Arne, Eschenhagen, Thomas, Decostre, Valérie, Carrier, Lucie, Bonne, Gisèle
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Cardiomyopathy, Dilated Cardiomyopathy, Dilated - genetics Cardiomyopathy, Dilated - metabolism Cell Nucleus Cell Nucleus - genetics Cell Nucleus - metabolism Cell Nucleus - pathology Cell Nucleus - ultrastructure Disease Models, Animal Disease Progression Female Genetics Haploinsufficiency Heterozygote Lamin Type A Lamin Type A - chemistry Lamin Type A - genetics Lamin Type A - metabolism Life Sciences Male Mice Mice, Transgenic Muscle, Skeletal Muscle, Skeletal - metabolism Mutation Myocardial Contraction Myocardial Contraction - genetics Myocardium Myocardium - metabolism Myocardium - pathology Myocytes, Cardiac Myocytes, Cardiac - metabolism Myocytes, Cardiac - pathology Phenotype Proteasome Endopeptidase Complex Proteasome Endopeptidase Complex - metabolism Proteolysis Ubiquitin Ubiquitin - metabolism
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