Results 11 to 20 of about 56,717 (273)
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]
Science, 2018 Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structural ...
L. Amoasii +12 more
semanticscholar +4 more sources
Dystrophin-Deficient Cardiomyopathy
Journal of the American College of Cardiology, 2016 Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.
Forum, Kamdar, Daniel J, Garry
openaire +3 more sources
Nature Communications, 2019 Dystrophin-deficient mice are used to test corrective strategies for Duchenne muscular dystrophy, but evaluation of dystrophin expression requires collection of tissue samples from specific muscles and time points.
Leonela Amoasii +11 more
doaj +2 more sources
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 +2 more sources
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy [PDF]
Scientific Reports, 2016 Autologous stem cells that have been genetically modified to express dystrophin are a possible means of treating Duchenne Muscular Dystrophy (DMD). To maximize the therapeutic effect, dystrophin construct needs to contain as many functional motifs as ...
J. Meng +8 more
semanticscholar +7 more sources
Aberrant location of inhibitory synaptic marker proteins in the hippocampus of dystrophin-deficient mice [PDF]
, 2014 Duchenne muscular dystrophy (DMD) is a neuromuscular disease that arises from mutations in the dystrophin-encoding gene. Apart from muscle pathology, cognitive impairment, primarily of developmental origin, is also a significant component of the disorder.
Gorecki, Dariusz C. +3 more
core +22 more sources
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle [PDF]
Physiological Reviews, 2002 The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations in the gene encoding dystrophin. There is currently no effective treatment for the disease; however, the complex molecular pathology of this disorder is now being unravelled.
Blake, D, Weir, A, Newey, S, Davies, K
openaire +3 more sources
The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction
Communications Biology, 2022 Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix (ECM).
D. Wilson, A. Tinker, Thomas Iskratsch
semanticscholar +1 more source
Nucleic Acids Research, 2022 Current therapies for Duchenne muscular dystrophy (DMD) use phosphorodiamidate morpholino oligomers (PMO) to induce exon skipping in the dystrophin pre-mRNA, enabling the translation of a shortened but functional dystrophin protein.
C. Desjardins +16 more
semanticscholar +1 more source
JAMA Neurology, 2020 This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell +19 more
semanticscholar +1 more source