Associated Papers
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
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG et al.
European Journal of Human Genetics : Ejhg, 2019
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
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
Harada H et al.
Journal of Human Genetics, 2018
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
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
McLaughlin HM et al.
Bmc Medical 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
Autophagy and p62 in cardiac proteinopathy.
Zheng Q et al.
Circulation Research, 2011
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.
Conover GM et al.
Molecular Biology of the Cell, 2009
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 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
AlphaB-crystallin modulates protein aggregation of abnormal desmin.
Wang X et al.
Circulation Research, 2003
Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes.
Haubold K et al.
Cell Motility and the Cytoskeleton, 2003
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