Results 51 to 60 of about 7,866 (244)

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

Preventing phosphorylation of dystroglycan ameliorates the dystrophic phenotype in mdx mouse [PDF]

, 2012
Loss of dystrophin protein due to mutations in the DMD gene causes Duchenne muscular dystrophy. Dystrophin loss also leads to the loss of the dystrophin glycoprotein complex (DGC) from the sarcolemma which contributes to the dystrophic phenotype ...
Andrew Mitchell, Andrä, Assereto, Batchelor, Bonuccelli, Bonuccelli, Chris J. Moore, Clerk, Cluchague, Cox, Deconinck, Dominic J. Wells, Ervasti, Ervasti, Ervasti, Foster, Gaynor Miller, Gazzerro, Goyenvalle, Grady, Greenberg, Gundesli, Hoyte, Hu, Ilsley, James, Judge, Karpati, Konieczny, Lipscomb, Matsumura, McArthur, Miller, Moore, Morgan, Nguyen, Otte, Pereboev, Pichavant, Pulkkinen, Rebecca Terry, Rezniczek, Robert Piggott, Schröder, Sharp, Smith, Sotgia, Sotgia, Steve J. Winder, T. Neil Dear, Thompson, Thompson, Tinsley, Tinsley, Tracy La Riviere, Winder   +55 more
core   +2 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

Association of Aciculin with Dystrophin and Utrophin [PDF]

Journal of Biological Chemistry, 1995
Aciculin is a recently identified 60-kDa cytoskeletal protein, highly homologous to the glycolytic enzyme phosphoglucomutase type 1, (Belkin, A. M., Klimanskaya, I. V., Lukashev, M. E., Lilley, K., Critchley, D., and Koteliansky, V. E. (1994) J. Cell Sci. 107, 159-173).
A M, Belkin, K, Burridge
openaire   +2 more sources

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

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

The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries.

PLoS ONE, 2012
Dystrophin and utrophin link the F-actin cytoskeleton to the cell membrane via an associated glycoprotein complex. This functionality results from their domain organization having an N-terminal actin-binding domain followed by multiple spectrin-repeat ...
Muralidharan Muthu, Kylie A Richardson, Andrew J Sutherland-Smith   +2 more
doaj   +1 more source

WH2 and proline-rich domains of WASP-family proteins collaborate to accelerate actin filament elongation. [PDF]

, 2017
WASP-family proteins are known to promote assembly of branched actin networks by stimulating the filament-nucleating activity of the Arp2/3 complex.
Akin, Orkun, Bieling, Peter, Fletcher, Daniel A, Hansen, Scott D, Hayden, Carl C, Li, Tai-De, Mullins, R Dyche   +6 more
core   +1 more source

Micro-utrophin Improves Cardiac and Skeletal Muscle Function of Severely Affected D2/mdx Mice

Molecular Therapy: Methods & Clinical Development, 2018
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by mutations in the dystrophin gene. DMD boys are wheelchair-bound around 12 years and generally survive into their twenties.
Tahnee L. Kennedy, Simon Guiraud, Ben Edwards, Sarah Squire, Lee Moir, Arran Babbs, Guy Odom, Diane Golebiowski, Joel Schneider, Jeffrey S. Chamberlain, Kay E. Davies   +10 more
doaj   +1 more source

Matricellular Protein CCN5 Gene Transfer Ameliorates Cardiac and Skeletal Dysfunction in mdx/utrn (±) Haploinsufficient Mice by Reducing Fibrosis and Upregulating Utrophin Expression

Frontiers in Cardiovascular Medicine, 2022
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration due to dystrophin gene mutations. Patients with DMD initially experience muscle weakness in their limbs during adolescence.
Min Ho Song, Jimeen Yoo, Jae Gyun Oh, Hyun Kook, Woo Jin Park, Dongtak Jeong, Dongtak Jeong   +6 more
doaj   +1 more source