Results 1 to 10 of about 25,343 (235)

Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model

open access: yesScientific Reports, 2021
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by loss of dystrophin. This lack also affects cardiac structure and function, and cardiovascular complications are a major cause of death in DMD.
Gerard A. Marchal   +8 more
doaj   +1 more source

Potent Dystrophin knock-Down in Vitro and in Vivo Using RNAi Technonlogy and Expression Signature of Myotubes with Dystrophin knocked Down: Attempts at Unravelling the Mystery [PDF]

open access: yesIranian Journal of Public Health, 2005
Duchenne Muscular Dystrophy (DMD) is one of a group of genetically heterogeneous muscular dystrophies that are characterized by progressive weakness and wasting of skeletal muscle.
MM Ghahramani Seno   +6 more
doaj   +1 more source

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin

open access: yesScientific Reports, 2021
Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts of tissue, and are difficult to standardize ...
David P. Bishop   +10 more
doaj   +1 more source

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle

open access: yesFrontiers in Physiology, 2022
This review details the role of dystrophin and the dystrophin associated proteins (DAPs) in the vascular smooth muscle. Dystrophin is most comprehensively studied in the skeletal muscle due to serious symptoms found related to the skeletal muscle of ...
Katherine M. Kaplan, Kathleen G. Morgan
doaj   +1 more source

Promising therapeutic approaches of utrophin replacing dystrophin in the treatment of Duchenne muscular dystrophy

open access: yesFundamental Research, 2022
Duchenne muscular dystrophy (DMD) is a serious genetic neuromuscular rare disease that is prevalent and caused by the mutation/deletion of the X-linked DMD gene that encodes dystrophin.
Ruo Wu   +3 more
doaj   +1 more source

Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

open access: yesNature Communications
Current gene therapy for Duchenne muscular dystrophy (DMD) utilizes adeno-associated virus (AAV) to deliver micro-dystrophin (µDys), which does not provide full protection for striated muscles as it lacks many important functional domains of full-length (
Yuan Zhou   +4 more
doaj   +1 more source

Myelination is delayed during postnatal brain development in the mdx mouse model of Duchenne muscular dystrophy

open access: yesBMC Neuroscience, 2017
Background In Duchenne muscular dystrophy (DMD), the loss of the dystrophin component of the dystrophin-glycoprotein complex (DGC) compromises plasma membrane integrity in skeletal muscle, resulting in extensive muscle degeneration. In addition, many DMD
Azeez Aranmolate   +2 more
doaj   +1 more source

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells

open access: yesLife, 2021
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by deficiency in dystrophin, a protein product encoded by the DMD gene. Mitochondrial dysfunction is now attracting much attention as a central player in DMD pathology.
Emma Tabe Eko Niba   +6 more
doaj   +1 more source

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

open access: yesOrphanet Journal of Rare Diseases, 2012
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie   +7 more
doaj   +1 more source

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]

open access: yesPLoS ONE, 2018
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of ...
Valentina Sardone   +9 more
doaj   +1 more source

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