Results 51 to 60 of about 35,595 (240)
BMC Neuroscience, 2017 Background In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD
Azeez Aranmolate +2 more
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The Dystrophin Complex: Structure, Function, and Implications for Therapy.
Comprehensive Physiology, 2015 The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of function mutations in the genes encoding dystrophin, or the associated proteins, trigger instability of the plasma membrane, and myofiber loss.
Quan Q. Gao, E. McNally
semanticscholar +1 more source
Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice
Nature CommunicationsCurrent gene therapy for Duchenne muscular dystrophy (DMD) utilizes adeno-associated virus (AAV) to deliver micro-dystrophin (µDys), which does not provide full protection for striated muscles as it lacks many important functional domains of full-length (
Yuan Zhou +4 more
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Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells
Life, 2021 Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the DMD gene. Mitochondrial dysfunction is now attracting much attention as a central player in DMD pathology.
Emma Tabe Eko Niba +6 more
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Necroptosis mediates myofibre death in dystrophin-deficient mice
Nature Communications, 2018 Duchenne muscular dystrophy (DMD) is a severe degenerative disorder caused by mutations in the dystrophin gene. Dystrophin-deficient muscles are characterised by progressive myofibre necrosis in which inflammation plays a deleterious role.
J. Morgan +12 more
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The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy
Human Molecular Genetics, 2019 Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin. Several therapeutic modalities are currently in clinical trials but none will achieve maximum functional rescue and full disease correction.
S. Guiraud +7 more
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Micro-Dystrophin Gene Therapy Goes Systemic in Duchenne Muscular Dystrophy Patients.
Human Gene Therapy, 2018 Whole-body systemic gene therapy is likely the most effective way to reduce greatly the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to
D. Duan
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Orphanet Journal of Rare Diseases, 2012 Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie +7 more
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A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]
PLoS ONE, 2018 Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of ...
Valentina Sardone +9 more
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bioRxiv, 2018 Duchenne Muscular Dystrophy (DMD), a severe hereditary disease, affecting 1 boy out of 3500, mainly results from the deletion of one or more exons leading to a reading frame shift of the DMD gene that abrogates dystrophin protein synthesis.
Benjamin L Duchêne +8 more
semanticscholar +1 more source