Associated Papers
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
Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Sukhareva KS et al.
Cell and Tissue Research, 2023
The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
Brodehl A et al.
Cells, 2022
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Smolina N et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
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
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
Mutation in the Core Structure of Desmin Intermediate Filaments Affects Myoblast Elasticity.
Even C et al.
Biophysical Journal, 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
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy.
Cabet E et al.
Plos One, 2015
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.
Smolina N et al.
Cell Calcium, 2014
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A et al.
Journal of Proteomics, 2013
Cyclic stretch reveals a mechanical role for intermediate filaments in a desminopathic cell model.
Leccia E et al.
Physical Biology, 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 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
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
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
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B et al.
Human Mutation, 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
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
[Radical correction of an atypical variant of aortic coarctation].
Solov'ev GM et al.
Grudnaia I Serdechno-sosudistaia Khirurgiia, 1990
[Cloning and structural analysis of cDNA coding for human prointerleukin-1 alpha and prointerleukin-1 beta].
Kotenko SV et al.
Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 1989