Results 11 to 20 of about 18,110 (202)

Desmin Interacts Directly with Mitochondria [PDF]

International Journal of Molecular Sciences, 2020
Desmin intermediate filaments (IFs) play an important role in maintaining the structural and functional integrity of muscle cells. They connect contractile myofibrils to plasma membrane, nuclei, and mitochondria. Disturbance of their network due to desmin mutations or deficiency leads to an infringement of myofibril organization and to a deterioration ...
Dayal, Alexander A., Medvedeva, Natalia V., Nekrasova, Tatiana M., Duhalin, Sergey D., Surin, Alexey K., Minin, Alexander A.   +5 more
openaire   +3 more sources

Is Desmin Propensity to Aggregate Part of its Protective Function?

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   +2 more sources

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

Frontiers in Molecular Neuroscience, 2020
Desmin, the major intermediate filament (IF) protein in muscle cells, interlinks neighboring myofibrils and connects the whole myofibrillar apparatus to myonuclei, mitochondria, and the sarcolemma.
Nane Eiber, Franziska Fröb, Mirjam Schowalter, Christian Thiel, Christian Thiel, Christoph S. Clemen, Christoph S. Clemen, Christoph S. Clemen, Rolf Schröder, Rolf Schröder, Said Hashemolhosseini, Said Hashemolhosseini   +11 more
doaj   +2 more sources

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

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   +2 more sources

Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with the nkx2.5 gene

Biology Open, 2016
The transcription factor Nkx2.5 and the intermediate filament protein desmin are simultaneously expressed in cardiac progenitor cells during commitment of primitive mesoderm to the cardiomyogenic lineage.
Christiane Fuchs, Sonja Gawlas, Philipp Heher, Sofia Nikouli, Hannah Paar, Mario Ivankovic, Martina Schultheis, Julia Klammer, Teresa Gottschamel, Yassemi Capetanaki, Georg Weitzer   +10 more
doaj   +2 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
openaire   +4 more sources

Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies

Cell Reports, 2015
Desminopathies belong to a family of muscle disorders called myofibrillar myopathies that are caused by Desmin mutations and lead to protein aggregates in muscle fibers.
Caroline Ramspacher, Emily Steed, Francesco Boselli, Rita Ferreira, Nathalie Faggianelli, Stéphane Roth, Coralie Spiegelhalter, Nadia Messaddeq, Le Trinh, Michael Liebling, Nikhil Chacko, Federico Tessadori, Jeroen Bakkers, Jocelyn Laporte, Karim Hnia, Julien Vermot   +15 more
doaj   +2 more sources

New roles for desmin in the maintenance of muscle homeostasis

The FEBS Journal, 2021
Desmin is the primary intermediate filament (IF) of cardiac, skeletal, and smooth muscle. By linking the contractile myofibrils to the sarcolemma and cellular organelles, desmin IF contributes to muscle structural and cellular integrity, force ...
G. Agnetti, H. Herrmann, Shenhav Cohen
semanticscholar   +1 more source

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly

Cells, 2022
Desmin is the major intermediate filament protein of all three muscle cell types, and connects different cell organelles and multi-protein complexes such as the cardiac desmosomes. Several pathogenic mutations in the DES gene cause different skeletal and
A. Brodehl, Stephanie Holler, J. Gummert, H. Milting   +3 more
semanticscholar   +1 more source

Desmin interacts with STIM1 and coordinates Ca2+ signaling in skeletal muscle

JCI Insight, 2021
Stromal interaction molecule 1 (STIM1), the sarcoplasmic reticulum (SR) transmembrane protein, activates store-operated Ca2+ entry (SOCE) in skeletal muscle and, thereby, coordinates Ca2+ homeostasis, Ca2+-dependent gene expression, and contractility ...
Hengtao Zhang, V. Bryson, Chaojian Wang, Tianyu Li, J. P. Kerr, R. Wilson, D. Muoio, R. Bloch, C. Ward, P. Rosenberg   +9 more
semanticscholar   +1 more source