Results 61 to 70 of about 56,717 (273)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice
Nature CommunicationsCurrent 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
BMC 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
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin
Scientific 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
Fundamental 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
Stem Cells, 2019 Although the lack of dystrophin expression in muscle myofibers is the central cause of Duchenne muscular dystrophy (DMD), accumulating evidence suggests that DMD may also be a stem cell disease.
Polina R Matre +7 more
semanticscholar +1 more source
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells
Life, 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
The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy
Human Molecular Genetics, 2019 Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disorder caused by loss of dystrophin. Several therapeutic modalities are currently in clinical trials but none will achieve maximum functional rescue and full disease correction.
S. Guiraud +7 more
semanticscholar +1 more source
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway [PDF]
, 2017 Oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD), an X-linked genetic disorder caused by mutations in the dystrophin gene and characterized by progressive, lethal muscle degeneration and chronic inflammation.
Bertini, Enrico +10 more
core +1 more source