Results 41 to 50 of about 56,717 (273)

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy [PDF]

, 2009
Mammalian target of rapamycin (mTOR) is a key regulator of cell growth that associates with raptor and rictor to form the mTOR complex 1 (mTORC1) and mTORC2, respectively.
Baas, Dominique, Bauché, Stéphanie, Bigard, Xavier, Conjard-Duplany, Agnès, Corneloup, Claudine, Defour, Aurélia, Ferrier, Bernard, Ferry, Arnaud, Freyssenet, Damien, Gangloff, Yann-Gaël, Hantaï, Daniel, Koulmann, Nathalie, Kozma, Sara C., Le-Marchand-Brustel, Yannick, Mazelin, Laetitia, Moncollin, Vincent, Mueller, Matthias, Pende, Mario, Richard-Bulteau, Hélène, Risson, Valérie, Roceri, Mila, Romanino, Klaas, Rüegg, Markus A., Sanchez, Hervé, Schaeffer, Laurent, Tanti, Jean-François, Thomas, George, Vignaud, Alban   +27 more
core   +5 more sources

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma

Frontiers in Physiology, 2018
Dystrophin is a massive multi-domain protein composed of specialized amino and carboxyl termini that are separated by 24 spectrin-like repeats. Dystrophin performs critical structural and signaling roles that are indispensable for the functional ...
Justin M. Percival
doaj   +1 more source

Identification of new dystroglycan complexes in skeletal muscle. [PDF]

PLoS ONE, 2013
The dystroglycan complex contains the transmembrane protein β-dystroglycan and its interacting extracellular mucin-like protein α-dystroglycan. In skeletal muscle fibers, the dystroglycan complex plays an important structural role by linking the ...
Eric K Johnson, Bin Li, Jung Hae Yoon, Kevin M Flanigan, Paul T Martin, James Ervasti, Federica Montanaro   +6 more
doaj   +1 more source

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Scientific Reports, 2017
Duchenne muscular dystrophy (DMD) is a muscular dystrophy with high incidence of learning and behavioural problems and is associated with neurodevelopmental disorders.
N. Doorenweerd, A. Mahfouz, M. van Putten, R. Kaliyaperumal, P. A. '. ‘t Hoen, J. Hendriksen, A. Aartsma-Rus, J. Verschuuren, E. Niks, M. Reinders, H. Kan, B. Lelieveldt   +11 more
semanticscholar   +1 more source

Utilization of an Antibody Specific for Human Dystrophin to Follow Myoblast Transplantation in Nude Mice

Cell Transplantation, 1993
Human myoblasts were transplanted in nude mice. The efficacy of these transplantations was analyzed using a monoclonal antibody (NCLDys3) specific for human dystrophin. This antibody did not reveal any dystrophin in nude mice that did not receive a human
Johnny Huard, Geneviève Tremblay, Steve Verreault, Claude Labrecque, Jacques P. Tremblay   +4 more
doaj   +1 more source

In vivo dynamics of skeletal muscle Dystrophin in zebrafish embryos revealed by improved FRAP analysis

eLife, 2015
Dystrophin forms an essential link between sarcolemma and cytoskeleton, perturbation of which causes muscular dystrophy. We analysed Dystrophin binding dynamics in vivo for the first time.
Fernanda Bajanca, Vinicio Gonzalez-Perez, Sean J Gillespie, Cyriaque Beley, Luis Garcia, Eric Theveneau, Richard P Sear, Simon M Hughes   +7 more
doaj   +1 more source

When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes

Biomedicines, 2023
At 2.3 megabases in length, the dystrophin gene is enormous: transcription of a single mRNA requires approximately 16 h. Principally expressed in skeletal muscle, the dystrophin protein product protects the muscle sarcolemma against contraction-induced ...
John C. W. Hildyard, Richard J. Piercy
doaj   +1 more source

Characterization of 65 epitope-specific dystrophin monoclonal antibodies in canine and murine models of duchenne muscular dystrophy by immunostaining and western blot. [PDF]

PLoS ONE, 2014
Epitope-specific monoclonal antibodies can provide unique insights for studying cellular proteins. Dystrophin is one of the largest cytoskeleton proteins encoded by 79 exons. The absence of dystrophin results in Duchenne muscular dystrophy (DMD).
Kasun Kodippili, Lauren Vince, Jin-Hong Shin, Yongping Yue, Glenn E Morris, Mark A McIntosh, Dongsheng Duan   +6 more
doaj   +1 more source

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches

Journal of Personalized Medicine, 2019
Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by progressive muscle weakness, is caused by the absence or a decreased amount of the muscle cytoskeletal protein dystrophin.
Y. Shimizu-Motohashi, H. Komaki, N. Motohashi, S. Takeda, T. Yokota, Y. Aoki   +5 more
semanticscholar   +1 more source