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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Regenerative biomarkers for Duchenne muscular dystrophy
Neural Regeneration Research, 2019 Skeletal muscle has an extraordinary capacity to regenerate after injury and trauma. The muscle repair mechanism is a complex process orchestrated by multiple steps.
Simon Guiraud, Kay E Davies
doaj +1 more source
Biglycan : a multivalent proteoglycan providing structure and signals [PDF]
, 2013 Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana +2 more
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Metabogenic and Nutriceutical Approaches to Address Energy Dysregulation and Skeletal Muscle Wasting in Duchenne Muscular Dystrophy [PDF]
, 2015 Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in ...
Cooke, Matthew +4 more
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Repression-free utrophin-A 5'UTR variants.
Molecular biology research communications, 2019 Mutation in the dystrophin gene results Duchenne Muscular Dystrophy (DMD), an X-linked fatal neuromuscular disorder. Dystrophin deficiency can be compensated by upregulation of utrophin, an autosomal homologue of dystrophin. But the expression of utrophin in adults is restricted to myotendinous and neuromuscular junctions.
Malik, Debasish, Basu, Utpal
openaire +2 more sources
Noncoding RNAs and Duchenne muscular dystrophy [PDF]
, 2016 Noncoding RNAs (ncRNAs) such as miRNAs and long noncoding RNAs modulate gene transcription in response to environmental stressors and other stimuli. A role for ncRNAs in muscle pathologies has been demonstrated and further evidence suggests that ncRNAs ...
Austin PJ +5 more
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Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]
, 2015 Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia +10 more
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Utrophin is lacking at the neuromuscular junctions in the extraocular muscles of normal cat: artefact or true? [PDF]
, 2018 Extraocular muscles (EOM) are typically spared in Duchenne muscular dystrophy. We hypothesized that this might be due to different patterns of utrophin expression.
Assadi, Maziar, Müntener, Markus
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Employment of Microencapsulated Sertoli Cells as a New Tool to Treat Duchenne Muscular Dystrophy
Journal of Functional Morphology and Kinesiology, 2017 Duchenne muscular dystrophy (DMD) is a lethal X-linked pathology due to lack of dystrophin and characterized by progressive muscle degeneration, impaired locomotion and premature death.
Sara Chiappalupi +6 more
doaj +1 more source
Agrin-induced acetylcholine receptor clustering in mammalian muscle requires tyrosine phosphorylation. [PDF]
, 1996 Agrin is thought to be the nerve-derived factor that initiates acetylcholine receptor (AChR) clustering at the developing neuromuscularjunction. We have investigated the signaling pathway in mouse C2 myotubes and report that agrin induces a rapid but ...
Deiner, M, Ferns, M, Hall, Z
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