Associated Papers
Case report - Recurrent myocarditis-like episodes in a patient with a rare variant in DES gene: an uncommon hot-phases cardiomyopathy.
Manfrin L et al.
Esc Heart Failure, 2026
Genotype-Dependent Morpho-Mechanical Profiling of Patient-Derived Human Myotubes on Nanogrooved Substrates.
Crépin R et al.
Small (weinheim an Der Bergstrasse, Germany), 2026
R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.
Batonnet-Pichon S et al.
Journal of Cachexia, Sarcopenia and Muscle, 2025
Fiber Type-Specific Proteomic Alterations in R349P Desminopathy Mice.
Eggers B et al.
Muscle & Nerve, 2025
The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.
Eibach Y et al.
Science Advances, 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
Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria.
Berwanger C et al.
European Journal of Cell Biology, 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
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
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
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
New roles for desmin in the maintenance of muscle homeostasis.
Agnetti G et al.
The Febs Journal, 2022
The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.
Spörrer M et al.
Neuropathology and Applied Neurobiology, 2022
A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.
Langer HT et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.
Ignatieva E et al.
International Journal of Molecular Sciences, 2021
Generation of desminopathy in rats using CRISPR-Cas9.
Langer HT et al.
Journal of Cachexia, Sarcopenia and Muscle, 2020
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology.
Pollmann C et al.
International Journal of Molecular Sciences, 2020
Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice.
Stöckigt F et al.
Plos One, 2020
Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions.
Eiber N et al.
Frontiers in Molecular Neuroscience, 2020
A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease.
Hsu LA et al.
International Journal of Molecular Sciences, 2019
AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies.
Ruppert T et al.
Gene Therapy, 2019
Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.
Kedia N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Imbalances in protein homeostasis caused by mutant desmin.
Winter L et al.
Neuropathology and Applied Neurobiology, 2019
The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice.
Haug M et al.
Scientific Reports, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
The desmin network is a determinant of the cytoplasmic stiffness of myoblasts.
Charrier EE et al.
Biology of the Cell, 2018
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
Preaged remodeling of myofibrillar cytoarchitecture in skeletal muscle expressing R349P mutant desmin.
Diermeier S et al.
Neurobiology of Aging, 2017
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Unger A et al.
Acta Neuropathologica Communications, 2017
Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice.
Diermeier S et al.
Scientific Reports, 2017
A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.
Zheng J et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 2017
New aspects of myofibrillar myopathies.
Kley RA et al.
Current Opinion in Neurology, 2016
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Winter L et al.
Acta Neuropathologica, 2016
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
Chevessier F et al.
Human Molecular Genetics, 2015
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Bengoechea R et al.
Human Molecular Genetics, 2015
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Biomechanical characterization of myofibrillar myopathies.
Winter L et al.
Cell Biology International, 2015
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen CS et al.
Acta Neuropathologica, 2015
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Biomechanical characterization of a desminopathy in primary human myoblasts.
Bonakdar N et al.
Biochemical and Biophysical Research Communications, 2012
Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.
Sacconi S et al.
Journal of Medical Genetics, 2012