نتایج جستجو برای: dystrophin related protein 2 gene drp2
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Members of the dystrophin family of proteins perform a critical but incompletely characterized role in the maintenance of membrane-associated complexes at points of intercellular contact in many vertebrate cell types. They interact with, amongst others, the transmembrane laminin receptor dystroglycan, cytoskeletal actin and, indirectly, the intracellular membrane-associated signalling enzyme ne...
duchenne muscular dystrophy (dmd), one of the most common and most severe hereditary muscle diseases, is transmitted as an x-linked recessive trait and is usually fetal before the third decade of life. dmd usually presents between the ages of 2 and 5 with severe, progressive muscle weakness and delayed motor milestones. muscle enzymes in the serum including creatine kinase levels are extremely ...
Dystrophin, the protein product of the Duchenne muscular dystrophy locus, is a protein of the membrane cytoskeleton that associates with a complex of integral and membrane-associated proteins. Of these, the 58-kD intracellular membrane-associated protein, syntrophin, was recently shown to consist of a family of three related but distinct genes. We expressed the cDNA of human beta 1-syntrophin a...
Introduction The integrity of the animal cell membrane is believed to be maintained in part by the large (approx. 400 kDa) cytoskeletal proteins dystrophin and utrophin. Both proteins are capable of forming a link, probably flexible and potentially extensible/compressible, between the actin cytoskeleton and the cell membrane itself. Utrophin is expressed in all cell types, whereas dystrophin ex...
Duchenne muscular dystrophy (DMD) is the most common and severe inherited neuromuscular disorder. DMD is caused by mutations in the gene encoding the dystrophin protein in muscle fibers. Dystrophin was originally proposed to be a structural protein that protected the sarcolemma from stresses produced during contractions. However, more recently, experimental evidence has revealed a far more comp...
duchenne muscular dystrophy (dmd) and the milder allelic becker muscular dystrophy (bmd) are x-linked disorders. both dmd & bmd result from heterogenous mutation in the dystrophin gene and in about 65% of the cases one or more exons of the gene are deleted or duplicated. one third of cases arise from new mutation and the rest are familial. to analyze the prevalence of deletion in iranian patien...
Dystrophin, the protein encoded by the Duchenne muscular dystrophy (DMD) gene, exists in a large oligomeric complex. We show here that four glycoproteins are integral components of the dystrophin complex and that the concentration of one of these is greatly reduced in DMD patients. Thus, the absence of dystrophin may lead to the loss of a dystrophin-associated glycoprotein, and the reduction in...
Neuronal nitric oxide synthase (nNOS) in fast-twitch skeletal muscle fibers is primarily particulate in contrast to its greater solubility in brain. Immunohistochemistry shows nNOS localized to the sarcolemma, with enrichment at force transmitting sites, the myotendinous junctions, and costameres. Because this distribution is similar to dystrophin, we determined if nNOS expression was affected ...
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