Results 1 to 10 of about 48,181 (245)

Full-length human dystrophin on human artificial chromosome compensates for mouse dystrophin deficiency in a Duchenne muscular dystrophy mouse model [PDF]

Scientific Reports, 2023
Dystrophin maintains membrane integrity as a sarcolemmal protein. Dystrophin mutations lead to Duchenne muscular dystrophy, an X-linked recessive disorder.
Yosuke Hiramuki, Satoshi Abe, Narumi Uno, Kanako Kazuki, Shuta Takata, Hitomaru Miyamoto, Haruka Takayama, Kayoko Morimoto, Shoko Takehara, Mitsuhiko Osaki, Jun Tanihata, Shin’ichi Takeda, Kazuma Tomizuka, Mitsuo Oshimura, Yasuhiro Kazuki   +14 more
doaj   +2 more sources

Spatiotemporal analysis of dystrophin expression during muscle repair [PDF]

Skeletal Muscle
Background Dystrophin mRNA is produced from a very large genetic locus and transcription of a single mRNA requires approximately 16 h. This prolonged interval between initiation and completion results in unusual transcriptional behaviour: in skeletal ...
John C.W. Hildyard, Liberty E. Roskrow, Dominic J. Wells, Richard J. Piercy   +3 more
doaj   +2 more sources

Lentiviral vectors can be used for full-length dystrophin gene therapy [PDF]

Scientific Reports, 2017
Duchenne Muscular Dystrophy (DMD) is caused by a lack of dystrophin expression in patient muscle fibres. Current DMD gene therapy strategies rely on the expression of internally deleted forms of dystrophin, missing important functional domains.
John R. Counsell, Zeinab Asgarian, Jinhong Meng, Veronica Ferrer, Conrad A. Vink, Steven J. Howe, Simon N. Waddington, Adrian J. Thrasher, Francesco Muntoni, Jennifer E. Morgan, Olivier Danos   +10 more
doaj   +3 more sources

A combinatorial oligonucleotide therapy to improve dystrophin restoration and dystrophin-deficient muscle health [PDF]

Molecular Therapy: Nucleic Acids
Despite the proven safety of dystrophin-targeting phosphorodiamidate morpholino oligomer (PMO) therapy, poor delivery of the PMOs limit the efficacy of this dystrophin restoring gene therapy for Duchenne muscular dystrophy (DMD).
Young Jae Moon, Ravi Hindupur, Iteoluwakishi H. Gamu, Nikki M. McCormack, Fatima Shaikh, James S. Novak, Jyoti K. Jaiswal   +6 more
doaj   +2 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +30 more sources

The effects of low levels of dystrophin on mouse muscle function and pathology. [PDF]

PLoS ONE, 2012
Duchenne muscular dystrophy (DMD) is a severe progressive muscular disorder caused by reading frame disrupting mutations in the DMD gene, preventing the synthesis of functional dystrophin. As dystrophin provides muscle fiber stability during contractions,
Maaike van Putten, Margriet Hulsker, Vishna Devi Nadarajah, Sandra H van Heiningen, Ella van Huizen, Maarten van Iterson, Peter Admiraal, Tobias Messemaker, Johan T den Dunnen, Peter A C 't Hoen, Annemieke Aartsma-Rus   +10 more
doaj   +1 more source

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

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