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Published in 2019 at "Molecular Neurobiology"
DOI: 10.1007/s12035-019-01845-w
Abstract: Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene that prevent the body-wide translation of its protein product, dystrophin. Besides a severe muscle phenotype, cognitive impairment and neuropsychiatric symptoms are prevalent.…
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Keywords:
muscular dystrophy;
dp71;
dp71 neuropathophysiology;
dystrophin ... See more keywords
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Published in 2018 at "Acta histochemica"
DOI: 10.1016/j.acthis.2018.01.004
Abstract: Dystrophin (Dp) is a multidomain protein that links the actin cytoskeleton to the extracellular matrix through the dystrophin associated proteins complex (DAPC). Dp of 71 kDa (Dp71), corresponding to the COOH-terminal domain of dystrophin, and α1-syntrophin…
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Keywords:
dp71 1syn;
control;
dystrophin;
rat ... See more keywords
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Published in 2019 at "Brain Research"
DOI: 10.1016/j.brainres.2019.01.039
Abstract: The Drosophila olfactory system provides an excellent model to elucidate the neural circuits that control behaviors elicited by environmental stimuli. Despite significant progress in defining olfactory circuit components and their connectivity, little is known about…
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Keywords:
olfactory;
gain;
drosophila olfactory;
dystrophin ... See more keywords
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Published in 2017 at "Current gene therapy"
DOI: 10.2174/1566523217666171121165046
Abstract: BACKGROUND Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by the lack of dystrophin due to mutations in the DMD gene. Since dystrophin is essential in maintaining the integrity of the sarcolemmal membrane,…
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Keywords:
full length;
crispr cas;
muscular dystrophy;
dystrophin ... See more keywords
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Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043192
Abstract: Muscular dystrophy due to dystrophin deficiency in humans is phenotypically divided into a severe Duchenne and milder Becker type. Dystrophin deficiency has also been described in a few animal species, and few DMD gene variants…
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Keywords:
becker type;
dystrophin;
missense variant;
dystrophy ... See more keywords