Results 61 to 70 of about 35,595 (240)
Dystrophin As a Molecular Shock Absorber.
ACS Nano, 2018 Dystrophin is the largest protein isoform (427 kDa) expressed from the gene defective in Duchenne muscular dystrophy, a lethal muscle-wasting and genetically inherited disease.
Shimin Le +5 more
semanticscholar +1 more source
Increased neointimal thickening in dystrophin-deficient mdx mice.
PLoS ONE, 2012 BackgroundThe dystrophin gene, which is mutated in Duchenne muscular dystrophy (DMD), encodes a large cytoskeletal protein present in muscle fibers. While dystrophin in skeletal muscle has been extensively studied, the function of dystrophin in vascular ...
Uwe Rauch +5 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
Dystrophins and dystrobrevins.
Genome biology, 2001 A unique arrangement of domains makes up the common region of two otherwise very different proteins - long, elegant dystrophin, and its rather dumpy distant cousin, dystrobrevin. The two work in concert, forming the core of a large membrane-bound complex in all metazoa.
openaire +3 more sources
Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene
Molecular Therapy: Nucleic Acids, 2012 Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher +9 more
doaj +1 more source
Journal of Muscle Research and Cell Motility, 2019 Duchenne muscular dystrophy (DMD) is a fatal X-linked muscle wasting disease. The disease is due to mutations in the DMD gene that encodes for a large intracellular protein called dystrophin.
D. Wells
semanticscholar +1 more source
Differential expression of dystrophin, utrophin and dystrophin‐associated proteins in peripheral nerve [PDF]
FEBS Letters, 1993 The dystrophin‐glycoprotein complex is a novel laminin receptor in skeletal muscle. Dystrophin‐associated proteins are comprised of an extracellular glycoprotein of 156 kDa (156DAG), transmembrane glycoproteins of 50 kDa (50DAG), 43 kDa (43DAG) and 35 kDa (35DAG), and a cytoskeletal protein of 59 kDa (59DAP).
Teruo Shimizu +3 more
openaire +3 more sources
Advance and cogitation of gene therapy for Duchenne muscular dystrophy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma.
Cheng ZHANG, Jin-fu LIN, Zi-yu LIAO
doaj
Nature Communications, 2015 The CRISPR/Cas9 genome-editing platform is a promising technology to correct the genetic basis of hereditary diseases. The versatility, efficiency and multiplexing capabilities of the CRISPR/Cas9 system enable a variety of otherwise challenging gene ...
David G. Ousterout +5 more
semanticscholar +1 more source
Functional correction of dystrophin actin binding domain mutations by genome editing.
JCI Insight, 2017 Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle ...
V. Kyrychenko +8 more
semanticscholar +1 more source