Associated Papers
Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report.
Wang T et al.
Bmc Pediatrics, 2025
Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C et al.
Biochimie, 2024
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.
Oktay V et al.
Anatolian Journal of Cardiology, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
Sharma S et al.
Cell Stress & Chaperones, 2017
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Bang ML
Journal of Cellular Physiology, 2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 2017
Genetic Variations Leading to Familial Dilated Cardiomyopathy.
Cho KW et al.
Molecules and Cells, 2016
Role of Imaging in the Evaluation of Patients at Risk for Sudden Cardiac Death: Genotype-Phenotype Intersection.
Nagueh SF et al.
Jacc. Cardiovascular Imaging, 2015
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Desmin related disease: a matter of cell survival failure.
Capetanaki Y et al.
Current Opinion in Cell Biology, 2015
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A et al.
Circulation. Cardiovascular Genetics, 2013
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Dilated cardiomyopathy: a disease of the myocardium.
Sanbe A
Biological & Pharmaceutical Bulletin, 2013
Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.
Maddison P et al.
European Neurology, 2012
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
Chourbagi O et al.
Experimental Cell Research, 2011
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.
Bär H et al.
Journal of Molecular Biology, 2010
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.
Mavroidis M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica EC et al.
Neuromuscular Disorders : Nmd, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Insights into the beaded filament of the eye lens.
Perng MD et al.
Experimental Cell Research, 2007
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.
Pruszczyk P et al.
International Journal of Cardiology, 2007
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H et al.
Human Mutation, 2007
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.
Lapouge K et al.
Journal of Cell Science, 2006
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
[Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy].
Wang B et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2006
Sarcomeric protein mutations in dilated cardiomyopathy.
Chang AN et al.
Heart Failure Reviews, 2005
Genetic modification of the heart: chaperones and the cytoskeleton.
Kumarapeli AR et al.
Journal of Molecular and Cellular Cardiology, 2004
Characterization of the canine desmin (DES) gene and evaluation as a candidate gene for dilated cardiomyopathy in the Dobermann.
Stabej P et al.
Gene, 2004
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
Olivé M et al.
Journal of the Neurological Sciences, 2004
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D et al.
Brain : a Journal of Neurology, 2004
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy.
Kärkkäinen S et al.
Journal of Molecular Medicine (berlin, Germany), 2003
Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.
Dalakas MC et al.
Neuromuscular Disorders : Nmd, 2003
Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes.
Haubold K et al.
Cell Motility and the Cytoskeleton, 2003
Molecular mechanisms of inherited cardiomyopathies.
Fatkin D et al.
Physiological Reviews, 2002
Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population.
Miyamoto Y et al.
European Heart Journal, 2001
[Genetics of dilated cardiomyopathy].
Osterziel KJ et al.
Zeitschrift Fur Kardiologie, 2001
Epidemiology of desmin and cardiac actin gene mutations in a european population of dilated cardiomyopathy.
Tesson F et al.
European Heart Journal, 2000
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Sugawara M et al.
Neurology, 2000