Results 31 to 40 of about 7,799 (249)

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

A and B utrophin in human muscle and sarcolemmal A-utrophin associated with tumours

Neuromuscular Disorders, 2005
Utrophin is an autosomal homologue of dystrophin, abnormal expression of which is responsible for X-linked Duchenne and Becker muscular dystrophy. In normal mature muscle utrophin is confined to blood vessels, nerves and myotendinous and neuromuscular junctions. When dystrophin is absent utrophin is abundant on the sarcolemma.
Sewry, C, Nowak, K, Ehmsen, J, Davies, K
openaire   +3 more sources

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

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
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PMO-based let-7c site blocking oligonucleotide (SBO) mediated utrophin upregulation in mdx mice, a therapeutic approach for Duchenne muscular dystrophy (DMD)

Scientific Reports, 2020
Upregulation of utrophin, a dystrophin related protein, is considered a promising therapeutic approach for Duchenne muscular dystrophy (DMD). Utrophin expression is repressed at the post-transcriptional level by a set of miRNAs, among which let-7c is ...
Kasturi Sengupta, Emanuele Loro, Tejvir S. Khurana   +2 more
doaj   +1 more source

Micro-dystrophin gene therapy demonstrates long-term cardiac efficacy in a severe Duchenne muscular dystrophy model

Molecular Therapy: Methods & Clinical Development, 2023
Micro-dystrophin gene replacement therapies for Duchenne muscular dystrophy (DMD) are currently in clinical trials, but have not been thoroughly investigated for their efficacy on cardiomyopathy progression to heart failure. We previously validated Fiona/
Arden B. Piepho, Jeovanna Lowe, Laurel R. Cumby, Lisa E. Dorn, Dana M. Lake, Neha Rastogi, Megan D. Gertzen, Sarah L. Sturgill, Guy L. Odom, Mark T. Ziolo, Federica Accornero, Jeffrey S. Chamberlain, Jill A. Rafael-Fortney   +12 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
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Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]

, 2015
BackgroundDuchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Crosbie-Watson, Rachelle H, Jordan, Maria C, Marshall, Jamie L, Nguyen, Reginald T, Parvatiyar, Michelle S, Richardson, Vanitra A, Roos, Kenneth P   +6 more
core   +1 more source

Utrophin Transcription Is Activated by an Intronic Enhancer [PDF]

Journal of Biological Chemistry, 2000
The utrophin gene codes for a large cytoskeletal protein closely related to dystrophin. Its transcription is driven by a TATA-less promoter. Here we analyzed 40 kilobases of the 5' end region of the utrophin gene searching for new utrophin regulatory elements in muscle cells.
GALVAGNI F., OLIVIERO, Salvatore
openaire   +5 more sources