Fundamental Research, 2022 Duchenne muscular dystrophy (DMD) is a serious genetic neuromuscular rare disease that is prevalent and caused by the mutation/deletion of the X-linked DMD gene that encodes dystrophin.
Ruo Wu +3 more
doaj
Muscle structure influences utrophin expression in mdx mice. [PDF]
PLoS Genetics, 2014 Duchenne muscular dystrophy (DMD) is a severe muscle wasting disorder caused by mutations in the dystrophin gene. To examine the influence of muscle structure on the pathogenesis of DMD we generated mdx4cv:desmin double knockout (dko) mice.
Glen B Banks +4 more
doaj +1 more source
Prevention of the dystrophic phenotype in dystrophin/utrophin-deficient muscle following adenovirus-mediated transfer of a utrophin minigene [PDF]
Gene Therapy, 2000 Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder caused by the lack of a subsarcolemmal protein, dystrophin. We have previously shown that the dystrophin-related protein, utrophin is able to compensate for the lack of dystrophin in the mdx mouse, the mouse model for DMD.
Wakefield, P. M. +5 more
openaire +5 more sources
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy [PDF]
, 2017 Duchenne muscular dystrophy (DMD) is characterized by muscle degeneration and progressive weakness. There is considerable inter-patient variability in disease onset and progression, which can confound the results of clinical trials.
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Scientific Reports, 2021 Gene editing methods are an attractive therapeutic option for Duchenne muscular dystrophy, and they have an immediate application in the generation of research models. To generate myoblast cultures that could be useful in in vitro drug screening, we have
Patricia Soblechero-Martín +11 more
doaj +1 more source
Characterization of Dystrophin and Utrophin Diversity in the Mouse [PDF]
Human Molecular Genetics, 1999 Utrophin is a 400 kDa autosomal homolog of dystrophin and a component of the submembranous cytoskeleton. While multiple dystrophin isoforms have been identified along with alternatively spliced products, to date only two different mRNA species of utrophin have been identified.
Jill A. Rafael +8 more
openaire +3 more sources
Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]
, 2018 Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus +63 more
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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 +4 more
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Molecular and Functional Analysis of the Utrophin Promoter [PDF]
Nucleic Acids Research, 1996 Utrophin is a ubiquitously expressed cytoskeletal protein which is an important structural component of the mammalian neuromuscular junction. It shows extensive sequence similarity to dystrophin leading to postulation that utrophin may be able to compensate for the absence of dystrophin in Duchenne muscular dystrophy (DMD) patients.
Jonathon M. Tinsley +3 more
openaire +3 more sources
Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin. [PDF]
, 2012 Muscular dystrophy (MD) is the most common genetic lethal disorder in children. Mutations in dystrophin trigger the most common form of MD, Duchenne, and its allelic variant Becker MD.
Aaartsma-Rus +111 more
core +1 more source