Articles with "dystrophin" as a keyword



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Dystrophin Dp71 and the Neuropathophysiology of Duchenne Muscular Dystrophy

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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.… read more here.

Keywords: muscular dystrophy; dp71; dp71 neuropathophysiology; dystrophin ... See more keywords
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Dystrophin 71 and α1syntrophin in morpho-functional plasticity of rat supraoptic nuclei: Effect of saline surcharge and reversibly normal hydration.

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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… read more here.

Keywords: dp71 1syn; control; dystrophin; rat ... See more keywords
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Dystrophin is required for normal synaptic gain in the Drosophila olfactory circuit

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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… read more here.

Keywords: olfactory; gain; drosophila olfactory; dystrophin ... See more keywords
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Therapeutic Applications of CRISPR/Cas for Duchenne Muscular Dystrophy.

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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,… read more here.

Keywords: full length; crispr cas; muscular dystrophy; dystrophin ... See more keywords
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Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy

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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… read more here.

Keywords: becker type; dystrophin; missense variant; dystrophy ... See more keywords