Results 21 to 30 of about 59,671 (341)

Dystrophin in Fetal Muscle

Pediatric Neurology Briefs, 1992
Dystrophin, the product of the Duchenne muscular dystrophy gene, was studied in human fetal skeletal muscle from 9 to 26 weeks of gestation at the Jerry Lewis Muscle Research Centre, Hammersmith Hospital, London.
J Gordon Millichap
openalex   +5 more sources

The Dystrophin Node as Integrator of Cytoskeletal Organization, Lateral Force Transmission, Fiber Stability and Cellular Signaling in Skeletal Muscle

Proteomes, 2021
The systematic bioanalytical characterization of the protein product of the DMD gene, which is defective in the pediatric disorder Duchenne muscular dystrophy, led to the discovery of the membrane cytoskeletal protein dystrophin.
P. Dowling, S. Gargan, S. Murphy, M. Zweyer, H. Sabir, D. Swandulla, K. Ohlendieck   +6 more
semanticscholar   +1 more source

Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin [PDF]

Journal of Muscle Research and Cell Motility, 2013
Heart disease is a leading cause of death in patients with Duchenne muscular dystrophy (DMD). Patients with DMD lack the protein dystrophin, which is widely expressed in striated muscle. In skeletal muscle, the loss of dystrophin results in dramatically decreased expression of the dystrophin associated glycoprotein complex (DGC).
Katharine M. Sharpe, Monica D. Premsukh, DeWayne Townsend   +2 more
openaire   +3 more sources

In Vivo Genome Editing Restores Dystrophin Expression and Cardiac Function in Dystrophic Mice

Circulation Research, 2017
Mona El Refaey, Benjamin D Canan, David E Symer   +2 more
exaly   +2 more sources

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

Acta Neuropathologica Communications, 2020
The primary molecular endpoint for many Duchenne muscular dystrophy (DMD) clinical trials is the induction, or increase in production, of dystrophin protein in striated muscle.
Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke   +9 more
doaj   +1 more source

Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. [PDF]

PLoS ONE, 2012
Mutations affecting the expression of dystrophin result in progressive loss of skeletal muscle function and cardiomyopathy leading to early mortality.
Eric K Johnson, Liwen Zhang, Marvin E Adams, Alistair Phillips, Michael A Freitas, Stanley C Froehner, Kari B Green-Church, Federica Montanaro   +7 more
doaj   +1 more source

Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy

Molecular Therapy: Methods & Clinical Development, 2022
Duchenne muscular dystrophy (DMD) is a muscle wasting disorder caused by mutations in the DMD gene. Restoration of full-length dystrophin protein in skeletal muscle would have therapeutic benefit, but lentivirally mediated delivery of such a large gene ...
Jinhong Meng, Marc Moore, John Counsell, Francesco Muntoni, Linda Popplewell, Jennifer Morgan   +5 more
doaj   +1 more source

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

JAMA Neurology, 2020
This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell, Z. Sahenk, K. Lehman, C. Nease, L. Lowes, N. Miller, M. Iammarino, L. Alfano, A. Nicholl, S. Al-Zaidy, S. Lewis, K. Church, R. Shell, L. Cripe, R. Potter, D. Griffin, E. Pozsgai, A. Dugar, M. Hogan, L. Rodino-Klapac   +19 more
semanticscholar   +1 more source

Novel Nuclear Protein Complexes of Dystrophin 71 Isoforms in Rat Cultured Hippocampal GABAergic and Glutamatergic Neurons. [PDF]

PLoS ONE, 2015
The precise functional role of the dystrophin 71 in neurons is still elusive. Previously, we reported that dystrophin 71d and dystrophin 71f are present in nuclei from cultured neurons.
Rafael Rodríguez-Muñoz, María Del Carmen Cárdenas-Aguayo, Víctor Alemán, Beatriz Osorio, Oscar Chávez-González, Alvaro Rendon, Dalila Martínez-Rojas, Marco Antonio Meraz-Ríos   +7 more
doaj   +1 more source

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

Neurology, 2020
Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank, F. Schnell, Cody Akana, Saleh H. El-Husayni, C. Desjardins, J. Morgan, J. Charleston, V. Sardone, J. Domingos, G. Dickson, V. Straub, M. Guglieri, E. Mercuri, L. Servais, F. Muntoni   +14 more
semanticscholar   +1 more source