Journal of Cardiovascular Pharmacology and Therapeutics, 2022 Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by dystrophin gene mutations affecting striated muscle. Due to advances in skeletal muscle treatment, cardiomyopathy has emerged as a leading cause of death.
Melanie Gartz PhD, MS, MHS +5 more
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Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
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Marginal level dystrophin expression improves clinical outcome in a strain of dystrophin/utrophin double knockout mice. [PDF]
PLoS ONE, 2010 Inactivation of all utrophin isoforms in dystrophin-deficient mdx mice results in a strain of utrophin knockout mdx (uko/mdx) mice. Uko/mdx mice display severe clinical symptoms and die prematurely as in Duchenne muscular dystrophy (DMD) patients.
Dejia Li, Yongping Yue, Dongsheng Duan
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Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
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FEBS Open Bio, 2022 Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder caused by a mutation in the dystrophin gene. In addition to muscle pathology, some patients with DMD will exhibit cognitive impairments with severity being linked to age and type ...
Grant C. Hayward +7 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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Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]
, 2017 The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca +81 more
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Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V +12 more
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Dysfunctional muscle and liver glycogen metabolism in mdx dystrophic mice. [PDF]
PLoS ONE, 2014 Duchenne muscular dystrophy (DMD) is a severe, genetic muscle wasting disorder characterised by progressive muscle weakness. DMD is caused by mutations in the dystrophin (dmd) gene resulting in very low levels or a complete absence of the dystrophin ...
David I Stapleton +8 more
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Frontiers in Physiology, 2022 Duchenne muscular dystrophy (DMD) is an X-linked recessive fatal muscular disease. Gene therapy, cell therapy, and drug therapy are currently the most widely used treatments for DMD.
Yuhui Su, Yuhui Su, Yafeng Song
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