IRES-mediated translation of utrophin A is enhanced by glucocorticoid treatment in skeletal muscle cells. [PDF]
PLoS ONE, 2008 Glucocorticoids are currently the only drug treatment recognized to benefit Duchenne muscular dystrophy (DMD) patients. The nature of the mechanisms underlying the beneficial effects remains incompletely understood but may involve an increase in the ...
Pedro Miura +3 more
doaj +1 more source
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
core +6 more sources
Rescue of dystrophic skeletal muscle by PGC-1α involves a fast to slow fiber type shift in the mdx mouse. [PDF]
PLoS ONE, 2012 Increased utrophin expression is known to reduce pathology in dystrophin-deficient skeletal muscles. Transgenic over-expression of PGC-1α has been shown to increase levels of utrophin mRNA and improve the histology of mdx muscles.
Joshua T Selsby +4 more
doaj +1 more source
Molecular Metabolism, 2021 Objectives: Preferential damage to fast, glycolytic myofibers is common in many muscle-wasting diseases, including Duchenne muscular dystrophy (DMD).
Justin P. Hardee +16 more
doaj +1 more source
Identification, Characterization, and Localization of a Novel Kidney Polycystin-1-Polycystin-2 Complex [PDF]
, 2002 The functions of the two proteins defective in autosomal dominant polycystic kidney disease, polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that they may heterodimerize to form a "polycystin complex" involved ...
Ackermann +43 more
core +1 more source
FASEB BioAdvances, 2021 Duchenne muscular dystrophy (DMD) is a genetic disorder that results in the absence of dystrophin, a cytoskeletal protein. Individuals with this disease experience progressive muscle destruction, which leads to muscle weakness.
Roy W. R. Dudley +3 more
doaj +1 more source
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
core +2 more sources
Nature Communications, 2020 One potential approach for the treatment of Duchenne muscular dysrophy is to increase expression of the dystrophin homolog utrophin. Here, the authors show that eEF1A2 regulates utrophin expression, and show that 2 FDA-approved drugs upregulate eEIF1A2 ...
Christine Péladeau +10 more
doaj +1 more source
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
core +3 more sources
Microtubule binding distinguishes dystrophin from utrophin [PDF]
Proceedings of the National Academy of Sciences, 2014 Significance Our in vitro analyses reveal that dystrophin, the protein absent in Duchenne muscular dystrophy patients, binds microtubules with high affinity and pauses microtubule polymerization, whereas utrophin, the autosomal homologue of dystrophin thought to mirror many known functions of dystrophin, has no activity in either assay.
Joseph J, Belanto +7 more
openaire +2 more sources