Associated Papers
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Circulation. Genomic and Precision Medicine, 2025
Functional impact of the head domain variants of DES (Desmin) on filament assembly.
Voß S et al.
Genes & Diseases, 2025
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
Bueno Marinas M et al.
International Journal of Molecular Sciences, 2024
Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.
Geryk M et al.
Journal of Cellular Physiology, 2024
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
Genetic landscape in Russian patients with familial left ventricular noncompaction.
Meshkov AN et al.
Frontiers in Cardiovascular Medicine, 2023
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Maggi L et al.
International Journal of Molecular Sciences, 2021
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS et al.
The Journal of International Medical Research, 2021
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Kulikova O et al.
Genes, 2021
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.
Elliott JL et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 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
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
Hong D et al.
Neuropathology and Applied Neurobiology, 2011
[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].
Hong DJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Vernengo L et al.
Neuromuscular Disorders : Nmd, 2010
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Expression of caveolar components in primary desminopathy.
Shinde A et al.
Neuromuscular Disorders : Nmd, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Autopsy case of desminopathy involving skeletal and cardiac muscle.
Yuri T et al.
Pathology International, 2007
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B et al.
Human Mutation, 2006
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Impact of disease mutations on the desmin filament assembly process.
Bär H et al.
Journal of Molecular Biology, 2006
Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.
Bär H et al.
Experimental Cell Research, 2006
Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy.
Gard JJ et al.
Cardiovascular Research, 2005
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
Olivé M et al.
Journal of the Neurological Sciences, 2004
Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes.
Haubold K et al.
Cell Motility and the Cytoskeleton, 2003
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Goudeau B et al.
Human Mutation, 2001
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Sugawara M et al.
Neurology, 2000
Progress in desmin-related myopathies.
Goebel HH et al.
Journal of Child Neurology, 2000
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas MC et al.
The New England Journal of Medicine, 2000
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.
Sjöberg G et al.
Human Molecular Genetics, 1999
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
Muñoz-Mármol AM et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
Goldfarb LG et al.
Nature Genetics, 1998