Results 21 to 30 of about 56,165 (274)
Arquivos de Neuro-Psiquiatria, 1997 O camundongo mdx desenvolve distrofia muscular recessiva ligada ao cromossoma X (locus Xp21.1) e não expressa distrofina. Embora não apresente intensa fibrose do tecido muscular e acúmulo de tecido adiposo, é considerado o modelo animal mais adequado da ...
Sandra Lopes Seixas +3 more
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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
core +3 more sources
Immunoproteasome in animal models of Duchenne muscular dystrophy [PDF]
Journal of Muscle Research and Cell Motility, 2014 Increased proteasome activity has been implicated in the atrophy and deterioration associated with dystrophic muscles of Duchenne muscular dystrophy (DMD). While proteasome inhibitors show promise in the attenuation of muscle degeneration, proteasome inhibition-induced toxicity was a major drawback of this therapeutic strategy.
Chiao-Nan Joyce, Chen +4 more
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δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
Skeletal Muscle, 2011 Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement.
Blain Alison M, Straub Volker W
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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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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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Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O +9 more
core +2 more sources
Skeletal Muscle, 2011 Background Investigations into both the pathophysiology and therapeutic targets in muscle dystrophies have been hampered by the limited proliferative capacity of human myoblasts.
Mamchaoui Kamel +20 more
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Muscular dystrophy: Experimental animal models and therapeutic approaches (Review)
Experimental and Therapeutic Medicine, 2021 The muscular dystrophies are a heterogeneous group of genetically inherited diseases characterized by muscle weakness and progressive wasting, which can cause premature death in severe forms. Although >30 years have passed since the identification of the first protein involved in a type of muscular dystrophy, there is no effective treatment for these ...
Gaina, Gisela, Popa (Gruianu), Alexandra
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Biochemistry and Biophysics Reports, 2019 Dystrophinopathies are multi-system disorders that affect the skeletal musculature, the cardio-respiratory system and the central nervous system. The systematic screening of suitable biofluids for released or altered proteins promises new insights into ...
Sandra Murphy +4 more
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