Results 41 to 50 of about 32,246 (220)
Regulation of the cardiac sodium channel Nav1.5 by utrophin in dystrophin-deficient mice [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is a severe striated muscle disease due to the absence of dystrophin. Dystrophin deficiency results in dysfunctional sodium channels and conduction abnormalities in hearts of mdx mice.
Albesa, Maxime +11 more
core +2 more sources
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 +6 more
doaj +1 more source
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +1 more source
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy
Molecular Therapy: Nucleic Acids, 2022 Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function.
Liubov V. Gushchina +12 more
doaj +1 more source
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 +4 more
doaj +1 more source
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 +7 more
doaj +1 more source
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 +6 more
doaj +1 more source
Lentiviral vectors can be used for full-length dystrophin gene therapy
Scientific Reports, 2017 Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, missing important functional domains.
John R. Counsell +10 more
doaj +1 more source
Scientific Reports, 2021 Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD.
Gerard A. Marchal +8 more
doaj +1 more source