Associated Papers
Desmin mutations in cardiomyocytes increase susceptibility to coxsackievirus B3 infection by impairing antiviral IFN-β response and upregulating viral receptors expression.
Callon D et al.
Stem Cell Research & Therapy, 2026
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene.
Joanne P et al.
Stem Cell Research, 2024
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 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
Nebulin binding impedes mutant desmin filament assembly.
Baker LK et al.
Molecular Biology of the Cell, 2013
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy.
Segard BD et al.
Plos One, 2013
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
Sharma S et al.
Journal of Molecular Medicine (berlin, Germany), 2009
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
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D et al.
Brain : a Journal of Neurology, 2004
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