Associated Papers
Linking Cell Architecture to Mitochondrial Signaling in Neurodegeneration: The Role of Intermediate Filaments.
Marzetti E et al.
International Journal of Molecular Sciences, 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
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Sukhareva KS et al.
Cell and Tissue Research, 2023
Mitochondrial calcium signaling mediated transcriptional regulation of keratin filaments is a critical determinant of melanogenesis.
Tanwar J et al.
Biorxiv : the Preprint Server for Biology, 2023
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M et al.
Acta Neuropathologica Communications, 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
New roles for desmin in the maintenance of muscle homeostasis.
Agnetti G et al.
The Febs Journal, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
Skeletal Muscle Mitochondria Dysfunction in Genetic Neuromuscular Disorders with Cardiac Phenotype.
Ignatieva E et al.
International Journal of Molecular Sciences, 2021
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Smolina N et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Frontiers in Physiology, 2020
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
Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Bang ML
Journal of Cellular Physiology, 2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 2017
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
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen CS et al.
Acta Neuropathologica, 2015
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.
Smolina N et al.
Cell Calcium, 2014
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
Do mitochondria contribute to left ventricular non-compaction cardiomyopathy? New findings from myocardium of patients with left ventricular non-compaction cardiomyopathy.
Liu S et al.
Molecular Genetics and Metabolism, 2013
Genetic spectrum of cardiomyopathies with neuromuscular phenotype.
Kostareva A et al.
Frontiers in Bioscience (scholar Edition), 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
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
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
Saini-Chohan HK et al.
Journal of Lipid Research, 2012
Desmin-related cardiomyopathy: an unfolding story.
McLendon PM et al.
American Journal of Physiology. Heart and Circulatory Physiology, 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
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K et al.
The Journal of Clinical Investigation, 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
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
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria.
Kostareva A et al.
Journal of Muscle Research and Cell Motility, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
Kley RA et al.
Brain : a Journal of Neurology, 2007
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Arias M et al.
Neuromuscular Disorders : Nmd, 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
Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.
Bär H et al.
Human Molecular Genetics, 2005
121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands.
Goebel H et al.
Neuromuscular Disorders : Nmd, 2004