Results 71 to 80 of about 35,595 (240)
Integrative effects of dystrophin loss on metabolic function of the mdx mouse
Scientific Reports, 2018 Duchenne muscular dystrophy (DMD) is a disease marked by the development of skeletal muscle weakness and wasting. DMD results from mutations in the gene for the cytoskeletal protein dystrophin.
J. Straková +7 more
semanticscholar +1 more source
Direct binding of Torpedo syntrophin to dystrophin and the 87 kDa dystrophin homologue [PDF]
FEBS Letters, 1995 Syntrophin, a 58‐kDa membrane‐associated protein, is one component of a protein complex associated with dystrophin and other members of the dystrophin family, including the 87‐kDa homologue (87K protein). To characterize interactions between syntrophin and 87K protein, we used an in vitro overlay binding assay.
Tim Dwyer +2 more
openaire +2 more sources
Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy
Molecular Therapy: Nucleic Acids, 2022 Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function.
Liubov V. Gushchina +12 more
doaj
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
Functional disruption of the dystrophin gene in rhesus monkey using CRISPR/Cas9.
Human Molecular Genetics, 2015 CRISPR/Cas9 has been used to genetically modify genomes in a variety of species, including non-human primates. Unfortunately, this new technology does cause mosaic mutations, and we do not yet know whether such mutations can functionally disrupt the ...
Yongchang Chen +14 more
semanticscholar +1 more source
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
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
Human Gene Therapy, 2017 Dual adeno-associated virus (AAV) technology was developed in 2000 to double the packaging capacity of the AAV vector. The proof of principle has been demonstrated in various mouse models.
Kasun Kodippili +8 more
semanticscholar +1 more source
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
Journal of Cell Biology, 1993 The dystrophin-glycoprotein complex was tested for interaction with several components of the extracellular matrix as well as actin. The 156-kD dystrophin-associated glycoprotein (156-kD dystroglycan) specifically bound laminin in a calcium-dependent ...
J. Ervasti, K. Campbell
semanticscholar +1 more source
Physiological ReportsThe dystrophin protein has well‐characterized roles in force transmission and maintaining membrane integrity during muscle contraction. Studies have reported decreased expression of dystrophin in atrophying muscles during wasting conditions, and that ...
Kristy Swiderski +8 more
doaj +1 more source