Results 41 to 50 of about 7,107 (213)

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
core   +1 more source

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]

, 2013
Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core   +3 more sources

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

Subtle Neuromuscular Defects in Utrophin-deficient Mice [PDF]

The Journal of Cell Biology, 1997
Utrophin is a large cytoskeletal protein that is homologous to dystrophin, the protein mutated in Duchenne and Becker muscular dystrophy. In skeletal muscle, dystrophin is broadly distributed along the sarcolemma whereas utrophin is concentrated at the neuromuscular junction.
R M, Grady, J P, Merlie, J R, Sanes
openaire   +2 more sources

Cardioprotective Effect of Whole Body Periodic Acceleration in Dystrophic Phenotype mdx Rodent

Frontiers in Physiology, 2021
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle wasting and the development of a dilated cardiomyopathy (DCM), which is the leading cause of death in DMD patients.
Arkady Uryash, Alfredo Mijares, Eric Esteve, Jose A. Adams, Jose R. Lopez, Jose R. Lopez   +5 more
doaj   +1 more source

Nitric Oxide and l-Arginine Cause an Accumulation of Utrophin at the Sarcolemma: A Possible Compensation for Dystrophin Loss in Duchenne Muscular Dystrophy

Neurobiology of Disease, 1999
Duchenne muscular dystrophy (DMD), a severe X-linked recessive disorder which results in progressive muscle degeneration, is due to a lack of dystrophin, a membrane cytoskeletal protein.
Emmanuel Chaubourt, Philippe Fossier, Gérard Baux, Christine Leprince, Maurice Israël, Sabine De La Porte   +5 more
doaj   +1 more source

Marginal level dystrophin expression improves clinical outcome in a strain of dystrophin/utrophin double knockout mice. [PDF]

PLoS ONE, 2010
Inactivation of all utrophin isoforms in dystrophin-deficient mdx mice results in a strain of utrophin knockout mdx (uko/mdx) mice. Uko/mdx mice display severe clinical symptoms and die prematurely as in Duchenne muscular dystrophy (DMD) patients.
Dejia Li, Yongping Yue, Dongsheng Duan
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   +4 more sources

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

PLoS ONE, 2016
Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction
Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley   +6 more
doaj   +1 more source