Results 31 to 40 of about 7,758 (250)

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]

, 2010
Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V, Bushby, K, Edge, G, Feng, L, Guglieri, M, Hunt, D, Kinali, M, Lehovsky, J, Main, M, Morgan, JE, Muntoni, F, Sewry, CA, Straub, V   +12 more
core   +1 more source

Increased circulating levels of interleukin-6 induce perturbation in redox-regulated signaling cascades in muscle of dystrophic mice [PDF]

, 2017
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which dystrophin gene is mutated, resulting in dysfunctional or absent dystrophin protein.
Forcina, Laura, Musaro', Antonio, Nicoletti, Carmine, Pelosi, Laura, Scicchitano, Bianca Maria   +4 more
core   +3 more sources

Utrophin influences mitochondrial pathology and oxidative stress in dystrophic muscle

Skeletal Muscle, 2017
Background Duchenne muscular dystrophy (DMD) is a lethal X-linked muscle wasting disorder caused by the absence of dystrophin, a large cytoskeletal muscle protein.
Tahnee L. Kennedy, Lee Moir, Sarah Hemming, Ben Edwards, Sarah Squire, Kay Davies, Simon Guiraud   +6 more
doaj   +1 more source

Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin. [PDF]

, 2012
Muscular dystrophy (MD) is the most common genetic lethal disorder in children. Mutations in dystrophin trigger the most common form of MD, Duchenne, and its allelic variant Becker MD.
Aaartsma-Rus, Ahmad, Badorff, Barghorn, Belli, Blake, Blake, Chamberlain, Chenna, Chi, Cotton, Courdier-Fruh, Daragan, Deconinck, Deconinck, Delaglio, Deol, Ebihara, Emery, Ervasti, Espargaró, Fairclough, Fisher, Foster, Galkin, Galkin, Gilbert, Gimona, Grady, Gramolini, Greenfield, Gregorevic, Gregorevic, Hamed, Helliwell, Henderson, Henderson, Hoffman, Ishikawa-Sakurai, Ito, Kahana, Karpati, Keep, Khurana, Khurana, Kim, Klunk, Knuesel, Krishna, Lakowicz, Le Rumeur, Legardinier, Lehman, Levine-III, Li, Lin, Love, Love, Mallela, Matsumura, Mayer, Mirza, Miura, Moores, Muir, Muntoni, Myers, Nagarajan, Norwood, Odom, Odom, Ohlendieck, Orlova, Park, Parsell, Pastoret, Pearce, Phelps, Pons, Prior, Prior, Prochniewicz, Rafael, Rafael, Roberts, Roberts, Roberts, Ruschak, Ruszczak, Rybakova, Rybakova, Santoro, Santoro, Scott, Shatsky, Sieb, Singh, Singh, Sitnik, Sonnemann, Squire, Sutherland-Smith, Tanabe, Tinsley, Tinsley, Tinsley, van Deutekom, Wakefield, Wang, Wang, Winder, Winder   +111 more
core   +1 more source

A study of short utrophin isoforms in mice deficient for full-length utrophin

Mammalian Genome, 2003
Utrophin can functionally replace dystrophin in dystrophin-deficient muscle and may have a role in a therapeutic strategy for Duchenne muscular dystrophy. This has resulted in many investigations of the full-length muscle form of utrophin; however, the short utrophins and non-muscle forms have been relatively neglected, partly because they are ...
Kay E. Davies, Yvonne H. Edwards, Wendy Putt, Cecilia Jimenez-Mallebrera   +3 more
openaire   +4 more sources

Muscle structure influences utrophin expression in mdx mice. [PDF]

PLoS Genetics, 2014
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disorder caused by mutations in the dystrophin gene. To examine the influence of muscle structure on the pathogenesis of DMD we generated mdx4cv:desmin double knockout (dko) mice.
Glen B Banks, Ariana C Combs, Guy L Odom, Robert J Bloch, Jeffrey S Chamberlain   +4 more
doaj   +1 more source

Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy. [PDF]

Nature
Abstract Duchenne muscular dystrophy (DMD) is a muscle-degenerating disease caused by mutations in the DMD gene, which encodes the dystrophin protein1,2. Utrophin (UTRN), the genetic and functional paralogue of DMD, is upregulated in some DMD patients3–5. To further investigate this UTRN upregulation, we first developed an inducible messenger
Falcucci L, Dooley CM, Adamoski D, Juan T, Martinez J, Georgieva AM, Mamchaoui K, Cirzi C, Stainier DYR.   +8 more
europepmc   +3 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   +3 more sources

Biglycan meets utrophin [PDF]

Science-Business eXchange, 2011
Tivorsan Pharmaceuticals is working with a Brown University team to optimize recombinant biglycan for delivery to patients with Duchenne muscular dystrophy. The work builds on the researchers' finding that the extracellular matrix glycoprotein decreases muscle pathology and improves muscle function in dystrophic mice.
openaire   +2 more sources

Cloning and expression of full length mouse utrophin: the differential association of utrophin and dystrophin with AChR clusters [PDF]

FEBS Letters, 1996
We have cloned and sequenced mouse utrophin cDNA, and successfully expressed full length utrophin (400 kDa) in both muscle and non‐muscle cells. The expression of recombinant utrophin is compared with that of its homologue, dystrophin (427 kDa). We demonstrate that recombinant utrophin is targeted into agrin‐induced acetylcholine receptor (AChR ...
W.-X. Athena Guo, Mia C. Nichol, John P. Merlie   +2 more
openaire   +3 more sources