Results 21 to 30 of about 7,812 (251)
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
Biomolecules, 2021 Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in DMD gene translating in lack of functional dystrophin and resulting in susceptibility of myofibers to rupture during contraction.
Laura Salvadori +9 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
Functional characterization of orbicularis oculi and extraocular muscles [PDF]
, 2016 The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David +5 more
core +2 more sources
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
Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy. [PDF]
NatureAbstract Duchenne muscular dystrophy (DMD) is a muscle-degenerating disease caused by mutations in the DMD gene, which encodes the dystrophin protein1,2. Utrophin (UTRN), the genetic and functional paralogue of DMD, is upregulated in some DMD patients3–5. To further investigate this UTRN upregulation, we first developed an inducible messenger
Falcucci L +8 more
europepmc +3 more sources
A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours
Neuromuscular Disorders, 2005 Utrophin is an autosomal homologue of dystrophin, abnormal expression of which is responsible for X-linked Duchenne and Becker muscular dystrophy. In normal mature muscle utrophin is confined to blood vessels, nerves and myotendinous and neuromuscular junctions. When dystrophin is absent utrophin is abundant on the sarcolemma.
Sewry, C, Nowak, K, Ehmsen, J, Davies, K
openaire +4 more sources
Utrophin Transcription Is Activated by an Intronic Enhancer [PDF]
Journal of Biological Chemistry, 2000 The utrophin gene codes for a large cytoskeletal protein closely related to dystrophin. Its transcription is driven by a TATA-less promoter. Here we analyzed 40 kilobases of the 5' end region of the utrophin gene searching for new utrophin regulatory elements in muscle cells.
GALVAGNI F., OLIVIERO, Salvatore
openaire +6 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
Review: Dystroglycan in the Nervous System [PDF]
, 2007 Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core +2 more sources