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Desmin Phosphorylation Triggers Preamyloid Oligomers Formation and Myocyte Dysfunction in Acquired Heart Failure

Circulation Research, 2018
Peter P Rainer, Justyna Fert-Bober, Ronald J Holewinski   +2 more
exaly   +2 more sources

Myofibril breakdown during atrophy is a delayed response requiring the transcription factor PAX4 and desmin depolymerization

Proceedings of the National Academy of Sciences of the United States of America, 2017
Idit Kosti, Shenhav Cohen
exaly   +2 more sources

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Desmin-related myopathy

Clinical Genetics, 2010
Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We provide (i) a literature review on DRM, including clinical manifestations, inheritance, molecular genetics, myopathology and management and (ii) a meta-analysis of reported DES mutation carriers ...
van Spaendonck-Zwarts, K. Y., van Hessem, L., Jongbloed, J. D. H., de Walle, H. E. K., Capetanaki, Y., van der Kooi, A. J., van Langen, I. M., van den Berg, M. P., van Tintelen, J. P.   +8 more
openaire   +3 more sources

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

Acta Neuropathologica, 2016
Secondary mitochondrial dysfunction is a feature in a wide variety of human protein aggregate diseases caused by mutations in different proteins, both in the central nervous system and in striated muscle.
Lilli Winter, Ilka Wittig, Viktoriya Peeva   +2 more
exaly   +2 more sources

Desmin related disease: a matter of cell survival failure

Current Opinion in Cell Biology, 2015
Yassemi Capetanaki, Antigoni Diokmetzidou, Mary Tsikitis   +2 more
exaly   +2 more sources

Desmin myopathy with cardiomyopathy

Acta Neuropathologica, 1995
We report a case of abnormal desmin accumulation within the muscle of a 30-year-old female with a 2-year history of cardiomyopathy and axial muscle weakness. Serum creatine kinase was normal. A quadriceps muscle biopsy revealed pink hyaline inclusions, which stained for acid phosphatase and with PAS and were present in both fibre types.
C H, Cameron, M, Mirakhur, I V, Allen
openaire   +2 more sources

Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies

Muscle & Nerve, 1999
Cytoplasmic body myopathy (CBM) and desmin-related myopathy (DRM) are both characterized by an abnormal accumulation of desmin. To determine whether these abnormalities involve similar or different forms of desmin, we performed desmin two-dimensional electrophoresis: our results showed an increase in the two acidic isoforms in CBM muscles as compared ...
A, Caron, F, Chapon
openaire   +2 more sources

Interference of amino‐terminal desmin fragments with desmin filament formation

Cell Motility, 2009
AbstractShort polypeptides from intermediate filament (IF) proteins containing one of the two IF‐consensus motifs interfere severely with filament assembly in vitro. We now have systematically investigated a series of larger fragments of the muscle‐specific IF protein desmin representing entire functional domains such as coil1 or coil 2.
Bär, Harald, Sharma, Sarika, Kleiner, Helga, Mücke, Norbert, Zentgraf, Hanswalter, Katus, Hugo A., Aebi, Ueli, Herrmann, Harald   +7 more
openaire   +3 more sources

Cardiomyocyte-specific desmin rescue of desmin null cardiomyopathy excludes vascular involvement

Journal of Molecular and Cellular Cardiology, 2004
Mice deficient in desmin, the muscle-specific member of the intermediate filament gene family, display defects in all muscle types and particularly in the myocardium. Desmin null hearts develop cardiomyocyte hypertrophy and dilated cardiomyopathy (DCM) characterized by extensive myocyte cell death, calcific fibrosis and multiple ultrastructural defects.
Noah, Weisleder, Elisavet, Soumaka, Shahrzad, Abbasi, Heinrich, Taegtmeyer, Yassemi, Capetanaki   +4 more
openaire   +2 more sources

Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations

Annals of Neurology, 2001
AbstractMuscle proteins were extracted in various sodium dodecyl sulfate buffers from 6 patients with myofibrillar myopathy (MFM) and previously identified with mutations in the desmin gene (desmin myopathy; DesM), 6 with MFM without mutations, and 14 disease controls to search for alterations in biochemistry and solubility of mutated desmin filaments.
M, Li, M C, Dalakas
openaire   +2 more sources