Results 51 to 60 of about 7,107 (213)

Post-natal induction of PGC-1α protects against severe muscle dystrophy independently of utrophin [PDF]

, 2014
Background: Duchenne muscle dystrophy (DMD) afflicts 1 million boys in the US and has few effective treatments. Constitutive transgenic expression of the transcriptional coactivator peroxisome proliferator-activated receptor gamma coactivator (PGC)-1α ...
Arany, Zolt, Chan, Mun Chun, Farrell, Caitlin, Patten, Ian S, Raghuram, Srilatha, Rowe, Glenn C   +5 more
core   +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

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

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

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

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

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

Steric regulation of tandem calponin homology domain actin-binding affinity. [PDF]

, 2019
Tandem calponin homology (CH1-CH2) domains are common actin-binding domains in proteins that interact with and organize the actin cytoskeleton. Despite regions of high sequence similarity, CH1-CH2 domains can have remarkably different actin-binding ...
Bausch, Andreas, Belardi, Brian, Fletcher, Daniel A, Harris, Andrew R, Jreij, Pamela, Shams, Hengameh, Wei, Kathy   +6 more
core   +1 more source

How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse [PDF]

, 2015
Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to ...
Betts, C, Coursindel, T, El Andaloussi, S, Gait, M J, Godfrey, C, Hammond, S, Hildyard, J C W, McClorey, G, Muses, S, O'Donovan, L, Terry, R L, Wells, D J, Wells, K E, Wood, M J   +13 more
core   +2 more sources

Asynchrony Related to Mechanical Ventilation Exacerbates Diaphragm Dysfunction in a Mouse Model of Duchenne Muscular Dystrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims In dystrophic mice (mdx, a genetic homolog of Duchenne muscular dystrophy: DMD), previous studies showed that mechanical ventilation (MV) induces ventilator‐induced diaphragmatic dysfunction (VIDD). However, susceptibility to mechanical stress caused by asynchrony remains unknown.
Mohamad Yehya, Haikel Dridi, Eric Estève, Johan Moreau, Steven Reiken, Andrew R. Marks, Alain Lacampagne, Stefan Matecki   +7 more
wiley   +1 more source