Results 41 to 50 of about 59,671 (341)
Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin protein, leading to progressive muscle weakness and premature death due to respiratory and/or cardiac complications.
Ball, V +15 more
core +2 more sources
Scientific Reports, 2021 Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of ...
Z. Koeks +13 more
doaj +1 more source
Disease Models & Mechanisms, 2020 Dystrophin, encoded by the DMD gene on the X chromosome, stabilizes the sarcolemma by linking the actin cytoskeleton with the dystrophin-glycoprotein complex (DGC).
Naomi Teramoto +12 more
doaj +1 more source
Blastocyst injection of wild type embryonic stem cells induces global corrections in mdx mice. [PDF]
PLoS ONE, 2009 Duchenne muscular dystrophy (DMD) is an incurable neuromuscular degenerative disease, caused by a mutation in the dystrophin gene. Mdx mice recapitulate DMD features.
Elizabeth Stillwell +14 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
Dystrophins in vertebrates and invertebrates [PDF]
Human Molecular Genetics, 1998 Members of the dystrophin family of proteins perform a critical but incompletely characterized role in the maintenance of membrane-associated complexes at points of intercellular contact in many vertebrate cell types. They interact with, amongst others, the transmembrane laminin receptor dystroglycan, cytoskeletal actin and, indirectly, the ...
Roland G. Roberts, Martin Bobrow
openaire +2 more sources
eLife, 2015 Dystrophin forms an essential link between sarcolemma and cytoskeleton, perturbation of which causes muscular dystrophy. We analysed Dystrophin binding dynamics in vivo for the first time.
Fernanda Bajanca +7 more
doaj +1 more source
Current knowledge of dystrophin and dystrophin-associated proteins in the retina.
Histology and histopathology, 2000 Dramatical development of molecular genetics has been disclosing the molecular mechanism of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). DMD gene product, dystrophin, is a submembranous cytoskeletal protein and many dystrophin-associated proteins (DAPs) have been identified, such as utrophin, dystroglycans, sarcoglycans ...
Ueda, H., Baba, T., Ohno, S.
openaire +4 more sources
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
core +3 more sources
Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy
Molecular Neurobiology, 2019 Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin.
Michael Naidoo, K. Anthony
semanticscholar +1 more source