Results 1 to 10 of about 72,501 (324)

Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice [PDF]

Scientific Reports, 2017
In striated muscle, desmin intermediate filaments interlink the contractile myofibrillar apparatus with mitochondria, nuclei, and the sarcolemma. The desmin network’s pivotal role in myocytes is evident since mutations in the human desmin gene cause ...
Stefanie Diermeier, Julian Iberl, Kristina Vetter, Michael Haug, Charlotte Pollmann, Barbara Reischl, Andreas Buttgereit, Sebastian Schürmann, Marina Spörrer, Wolfgang H. Goldmann, Ben Fabry, Fatiha Elhamine, Robert Stehle, Gabriele Pfitzer, Lilli Winter, Christoph S. Clemen, Harald Herrmann, Rolf Schröder, Oliver Friedrich   +18 more
doaj   +3 more sources

Is Desmin Propensity to Aggregate Part of its Protective Function? [PDF]

Cells, 2020
Desmin is the major protein component of the intermediate filaments (IFs) cytoskeleton in muscle cells, including cardiac. The accumulation of cleaved and misfolded desmin is a cellular hallmark of heart failure (HF).
Sonia R. Singh, Hikmet Kadioglu, Krishna Patel, Lucie Carrier, Giulio Agnetti   +4 more
doaj   +3 more sources

AAV9-mediated gene transfer of desmin ameliorates cardiomyopathy in desmin-deficient mice [PDF]

Gene Therapy, 2016
Mutations of the human desmin (DES) gene cause autosomal dominant and recessive myopathies affecting skeletal and cardiac muscle tissue. Desmin knockout mice (DES-KO), which develop progressive myopathy and cardiomyopathy, mirror rare human recessive desminopathies in which mutations on both DES alleles lead to a complete ablation of desmin protein ...
Heckmann, M. B., Bauer, R., Jungmann, A., Winter, L., Rapti, K., Strucksberg, K-H, Clemen, C. S., Li, Zhenlin, Schroeder, R., Katus, H. A., Mueller, O. J.   +10 more
semanticscholar   +6 more sources

Desmin variants: Trigger for cardiac arrhythmias?

Frontiers in Cell and Developmental Biology, 2022
Desmin (DES) is a classical type III intermediate filament protein encoded by the DES gene. Desmin is abundantly expressed in cardiac, skeletal, and smooth muscle cells.
Wei Su, Wei Su, Stan W. van Wijk, Stan W. van Wijk, Bianca J. J. M. Brundel, Bianca J. J. M. Brundel   +5 more
doaj   +2 more sources

Morphologic and Morphometric Study of the Heart and Its Great Arteries in the Common Pheasant (Phasianus colchicus) [PDF]

Veterinary Medicine and Science
This study investigates the morphological and morphometric characteristics of the heart and great arteries in the common pheasant (Phasianus colchicus). Five adult male bird were used.
Hadis Ramezani, Nader Goodarzi
doaj   +2 more sources

Desmin-p.L112Q Disturbs Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy [PDF]

Journal of Cardiovascular Development and Disease
DES encodes the muscle-specific intermediate filament protein desmin, which is highly relevant to the structural integrity of cardiomyocytes. Mutations in this gene cause different cardiomyopathies including dilated cardiomyopathy.
Alexander Lütkemeyer, Sabrina Voß, Jonas Reckmann, Joline Groß, Anna Gärtner, Jan Gummert, Hendrik Milting, Andreas Brodehl   +7 more
doaj   +2 more sources

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects [PDF]

European Journal of Heart Failure, 2006
Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically ...
Eloisa Arbustini, Maurizia Grasso, Luigi Tavazzi   +2 more
exaly   +4 more sources

Desmin’s conformational modulation by hydrophobicity

Türk Biyokimya Dergisi
Nucleocytoplasmic transport is one of the key features in regulation of cellular physiology. Developing a better understanding of the molecular mechanism underlying the nucleocytoplasmic shuttling of proteins can broaden our perspective and understanding
Kural Mangıt Ecem, Cevheroğlu Orkun, Dinçer Pervin   +2 more
doaj   +2 more sources

Desmin Reorganization by Stimuli Inducing Oxidative Stress and Electrophiles: Role of Its Single Cysteine Residue

Antioxidants, 2023
The type III intermediate filament proteins vimentin and GFAP are modulated by oxidants and electrophiles, mainly through perturbation of their single cysteine residues.
Diego Moneo-Corcuera, Álvaro Viedma-Poyatos, Konstantinos Stamatakis, Dolores Pérez-Sala   +3 more
doaj   +1 more source

Desmin myopathy [PDF]

Brain, 2004
Desmin myopathy is a recently identified disease associated with mutations in desmin or alphaB-crystallin. Typically, the illness presents with lower limb muscle weakness slowly spreading to involve truncal, neck-flexor, facial, bulbar and respiratory muscles.
L G, Goldfarb, P, Vicart, H H, Goebel, M C, Dalakas   +3 more
openaire   +2 more sources