Results 61 to 70 of about 32,246 (220)
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
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang +16 more
wiley +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
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Dystrophin signal specificity using MANDYS106.
, 2014 Immunofluorescence intensities measured in pre-treatment biopsies of different patients with DMD at microscope settings suitable for imaging DMD samples (7% laser intensity). A. (Left): Dystrophin staining (AlexaFluor488).
Judith C. van Deutekom (632518) +8 more
core +1 more source
Cytoskeleton, EarlyView.ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith +9 more
wiley +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam +8 more
wiley +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]
PLoS 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
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source