Duchenne muscular dystrophy is a lethal X-linked recessive disorder caused by mutations in the dystrophin gene. Delivery of functionally effective levels o... C Dellorusso,JM Scott,D Hartigan-O'Connor,... - 《Proceedings of the National Academy of Sciences of the United States of America》 被...
Dystrophin-related protein (DRP) is an autosomal gene product with high homology to dystrophin. We have used highly specific antibodies to the unique C-terminal peptide sequences of DRP and dystrophin to examine the subcellular localization and biochemical properties of DRP in adult skeletal muscle....
Gene editing is often touted as a permanent method for correcting mutations, but its long-term benefits in Duchenne muscular dystrophy (DMD) may depend on sufficiently high editing efficiencies to halt muscle degeneration. Here, we explored the persistence of dystrophin expression following recombinant ...
Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R, Bre- solin N: The dystrophin gene is alternatively spliced through- out its coding sequence. FEBS Lett 2002, 517:163-166.Sironi M, Cagliani R, Pozzoli U, Bardoni A, Comi GP, Giorda R, et al. The dystrophin gene ...
We also identified sarcoglycan beta as highly significantly repressed to < 20% of controls, and this protein is a component of the dystrophin-glycoprotein complex of the sarcolemma and protects the muscle fibre from damage. Disruption of the heart sarcoglycan complex causes severe cardiomyopathy ...
Carol A. Podlasek, Denis Duboule, Wade Bushman 摘要: The role of the Hox gene Hoxd-13 in postnatal morphogenesis of the male accessory sex organs was examined by correlating the distribution and temporal regulation of expression in the accessory sex organs of postnatal mice with morphologic ...
Dystrophin, the gene responsible for DMD, encodes full-length dystrophin and various short dystrophin isoforms. In the mouse heart, full-length dystrophin Dp427 and a short dystrophin isoform, Dp71, are expressed. In this study, we intended to clarify the functions of these dystrophin isoforms ...
Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by loss-of-function mutations in the dystrophin gene. Loss of dystrophin in myofibers results contraction-induced damage, increased sarcolemma permeability, cytosolic calcium overloading, oxidative and nitrosamine stress, cell...
The principle of using MDs as therapeutic transgenes arose from the concept that Becker muscular dystrophy patients exhibiting natural in-frame deletions/mutations in their DMD gene exhibit a milder dystrophinopathy14,16. Several studies have shown body- wide expression and therapeutic efficacy of MDs...
Article: Dystrophin is closely linked to actin filaments three dimensional ultrastructural localization of dystrophin in cultured mouse myotubes