Results 91 to 100 of about 7,348 (200)

R405W Desmin Knock‐In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Mutations in the desmin gene cause skeletal myopathies and cardiomyopathies. The objective of this study was to elucidate the molecular pathology induced by the expression of R405W mutant desmin in murine skeletal muscle. Methods A comprehensive characterization of the skeletal muscle pathology in hetero‐ and homozygous R405W desmin
Sabrina Batonnet‐Pichon, Florence Delort, Alain Lilienbaum, Carolin Berwanger, Dorothea Schultheis, Ursula Schlötzer‐Schrehardt, Andreas Schmidt, Steffen Uebe, Yosra Baiche, Tom J. Eisenack, Débora Broch Trentini, Markus Mallek, Leonid Mill, Ana Ferreiro, Bettina Eberhard, Thomas Lücke, Markus Krüger, Christian Thiel, Rolf Schröder, Christoph S. Clemen   +19 more
wiley   +1 more source

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

PLoS ONE, 2018
AimsLikely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC).
Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed   +22 more
doaj   +1 more source

Bidirectional Interplay between Vimentin Intermediate Filaments and Contractile Actin Stress Fibers

Cell Reports, 2015
The actin cytoskeleton and cytoplasmic intermediate filaments contribute to cell migration and morphogenesis, but the interplay between these two central cytoskeletal elements has remained elusive.
Yaming Jiu, Jaakko Lehtimäki, Sari Tojkander, Fang Cheng, Harri Jäälinoja, Xiaonan Liu, Markku Varjosalo, John E. Eriksson, Pekka Lappalainen   +8 more
doaj   +1 more source

Clinical and immunopathological spectrum of immunoglobulin M pemphigoid: a multicenter case series

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 12, Page 1555-1564, December 2025.
Summary Background and Objectives Pemphigoid diseases are primarily mediated by IgG or IgA autoantibodies against the cutaneous basement membrane zone (BMZ). Although recent observations suggest the existence of exclusively IgM‐mediated pemphigoid disease, a larger study is lacking.
Kaan Yilmaz, Stephanie Goletz, Christoph M. Hammers, Katharina Boch, Claudia Zeidler, Henning Wiegmann, Estelle Bergmann, Tina Rastegar Lari, Onur Dikmen, Nina Häring, Robert Strohal, Andreas Kleinheinz, Eva N. Hadaschik, Nina van Beek, Sonja Ständer, Enno Schmidt   +15 more
wiley   +1 more source

Several dystrophin-glycoprotein complex members are present in crude surface membranes but they are sodium dodecyl sulphate invisible in KCl-washed microsomes from mdx mouse muscle. [PDF]

, 2009
International audienceThe dystrophin-glycoprotein complex (DGC) is a large trans-sarcolemmal complex that provides a linkage between the subsarcolemmal cytoskeleton and the extracellular matrix.
Cherel, Yan, Daval, Stéphanie, Le Rumeur, Elisabeth, Rocher, Chantal   +3 more
core   +3 more sources

Endocrine, Metabolic, and Skeletal Muscle Proteomic Responses During Energy Deficit With Concomitant Aerobic Exercise in Humans

The FASEB Journal, Volume 39, Issue 21, 15 November 2025.
After consecutive 5‐day periods of energy balance and energy deficit (ED, 78% reduced energy availability—EA) including aerobic exercise, trained males experienced reduced fat and fat‐free mass, alongside hormonal and metabolic adaptations favoring energy preservation and greater fat oxidation at rest and during exercise, without changes in resting ...
Yusuke Nishimura, Carl Langan‐Evans, Harry L. Taylor, Wee L. Foo, James P. Morton, Sam Shepherd, Juliette A. Strauss, Jatin G. Burniston, José L. Areta   +8 more
wiley   +1 more source

Computational and theoretical modeling of intermediate filament networks: Structure, mechanics and disease [PDF]

, 2016
Intermediate filaments, in addition to microtubules and actin microfilaments, are one of the three major components of the cytoskeleton in eukaryotic cells.
Buehler, Markus J, Qin, Zhao
core   +1 more source

Plectin is a regulator of prostate cancer growth and metastasis

Oncogene, 2020
Prostate cancer is responsible for over 30,000 US deaths annually, attributed largely to incurable metastatic disease. Here, we demonstrate that high levels of plectin are associated with localized and metastatic human prostate cancer when compared to benign prostate tissues.
Mark Buckup, Meghan A. Rice, En-Chi Hsu, Fernando Garcia-Marques, Shiqin Liu, Merve Aslan, Abel Bermudez, Jiaoti Huang, Sharon J. Pitteri, Tanya Stoyanova   +9 more
openaire   +3 more sources

Mechanical Stretch‐Induced Interlayer Coordination between MMP2 and COL17A1 Exacerbates Regenerative Exhaustion in Skin

Advanced Science, Volume 12, Issue 41, November 6, 2025.
Regeneration reaches a hidden limit under mechanical stretch. Prolonged tension alters dermal–epidermal communication, exhausting epidermal stem cells via MMP2–COL17A1 signaling. MMP2 inhibition by Marimastat preserves adhesion and regenerative capacity, offering a potential strategy to overcome the inherent boundaries of skin expansion.
Yidan Sun, Qili Qian, Luwen Xu, Bowen Gao, Ting Li, Yin Li, Jiayi Zheng, Qiaoyu Fu, Xi Cheng, Nuo Chen, Sijia Wang, Liang Zhang, Caiyue Liu, Qingfeng Li   +13 more
wiley   +1 more source

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

Acta Dermato-Venereologica, 2020
is missing (Short communication)
Wei-Ting Tu, Peng-Chieh Chen, Ping-Chen Hou, Hsin-Yu Huang, Jing-Yu Wang, Sheau-Chiou Chao, Julia Yu-Yun Lee, John A. McGrath, Ken Natsuga, Chao-Kai Hsu   +9 more
doaj   +1 more source