Results 81 to 90 of about 28,350 (246)
PLoS ONE, 2014 Duchenne muscular dystrophy (DMD) is characterized by the absence or reduced levels of dystrophin expression on the inner surface of the sarcolemmal membrane of muscle fibers.
Chantal Beekman +8 more
doaj +1 more source
The interaction of actin with dystrophin
FEBS Letters, 1990 Proton NMR spectroscopy of synthetic peptides corresponding to defined regions of human dystrophin has been employed to study the interaction with F‐actin. No evidence of interaction with a C‐terminal region corresponding to amino acid residues 3429–3440 was obtained.
Levine, B.A. +3 more
openaire +2 more sources
Senolytics and exercise: Dual modalities for rejuvenating muscle
The Journal of Physiology, EarlyView.Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican +4 more
wiley +1 more source
Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin
Journal of Functional Morphology and Kinesiology, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in ...
Laura Forcina +3 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend The results from this study show that maximal cardiac output, stroke volume and leg blood flow are similar between highly trained females and males after normalisation to lean body mass (LBM). However, the 10% higher haemoglobin concentration ([Hb]) and arterial O2 content in males result in higher systemic and leg O2 delivery ...
Øyvind Skattebo +11 more
wiley +1 more source
The emerging family of dystrophin-related proteins
, 1994 Duchenne and Becker muscular dystrophies are caused by mutations in the gene encoding dystrophin, a component of the subsarcolemmal cytoskeleton. Dystrophin-related proteins are identical or homologous to the cysteine-rich and C-terminal domains of ...
Davies, Kay E. +2 more
core +1 more source
TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
Cell Reports, 2015 The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo +13 more
doaj +1 more source
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
, 2011 Mutations in the dystrophin gene have long been recognised as a cause of mental retardation. However, for reasons that are unclear, some boys with dystrophin mutations do not show general cognitive deficits.
Conrad, Bernard +15 more
core +1 more source
Dystrophinopathy in the paravertebral muscle of adolescent idiopathic scoliosis: a prospective case-control study in China [PDF]
Asian Spine JournalStudy Design A prospective case-control study. Purpose This prospective case-control study aimed to analyze the paravertebral muscle changes in patients with adolescent idiopathic scoliosis (AIS) and determine paravertebral myopathological changes ...
Junyu Li +7 more
doaj +1 more source