Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Geist Hauserman J et al.
Hgg Advances, 2024
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
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
Cardiac splicing as a diagnostic and therapeutic target.
Gotthardt M et al.
Nature Reviews. Cardiology, 2023
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Papadopoulos C et al.
International Journal of Molecular Sciences, 2023
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Silva AMS et al.
Journal of Neuropathology and Experimental Neurology, 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient.
Ji L et al.
Frontiers in Cardiovascular Medicine, 2022
The Desmin Mutation DES-c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.
Brodehl A et al.
Biomedicines, 2021
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M 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
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
Hernandez DA et al.
Molecular Biology of the Cell, 2016
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Winter L et al.
Acta Neuropathologica, 2016
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Autophagic vacuolar pathology in desminopathies.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 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
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A et al.
Journal of Proteomics, 2013
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
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2012
The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.
Conover GM et al.
Journal of Cell Science, 2011
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
Chourbagi O et al.
Experimental Cell Research, 2011
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
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 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
Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.
Bär H et al.
Journal of Molecular Biology, 2010
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
Intermediate filaments: primary determinants of cell architecture and plasticity.
Herrmann H et al.
The Journal of Clinical Investigation, 2009
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen CS et al.
Human Mutation, 2009
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.
Conover GM et al.
Molecular Biology of the Cell, 2009
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Strach K et al.
Neuromuscular Disorders : Nmd, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
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
The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.
Vrabie A et al.
Acta Neuropathologica, 2005