Results 191 to 200 of about 25,343 (235)

Dystrophin and related proteins

Current Opinion in Genetics & Development, 1993
During the past year significant progress has been made in understanding how dystrophin deficiency leads to muscle cell necrosis in Duchenne muscular dystrophy and Becker muscular dystrophy. Dystrophin interacts with a glycoprotein complex spanning the muscle sarcolemma, effectively linking the actin cytoskeleton to the extracellular matrix.
J M, Tinsley, D J, Blake, M, Pearce, A E, Knight, J, Kendrick-Jones, K E, Davies   +5 more
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Dystrophin in the retina

Progress in Neurobiology, 1997
Dystrophin is a plasma membrane-associated cytoskeletal protein of the spectrin superfamily. The dystrophin cytoskeleton has been first characterized in muscle. Muscular 427 kDa dystrophin binds to subplasmalemmal actin filaments via its amino-terminal domain.
F, Schmitz, D, Drenckhahn
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Gentamicin fails to increase dystrophin expression in dystrophin‐deficient muscle

Muscle & Nerve, 2003
Abstract A recent report that aminoglycoside antibiotics restored the expression of functional dystrophin to skeletal muscles of mdx mice, a model of Duchenne muscular dystrophy (DMD), raised hopes that DMD may be treatable by a conventional drug. Subsequently, several human
Patrick, Dunant, Maggie C, Walter, George, Karpati, Hanns, Lochmüller   +3 more
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Human dystrophin gene transfer: genetic correction of dystrophin deficiency

1993
Somatic gene therapy, as generally conceived, involves reconstituting a biological function by adding a normal gene to somatic, i.e. non-germline, cells which are genetically deficient in that gene product (Friedmann, 1989). Single gene or Mendelian disorders which are recessive (autosomal or X-linked) are particularly attractive candidates for such a ...
G, Dickson, M, Dunckley
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Molecular Extensibility of Mini-dystrophins and a Dystrophin Rod Construct

Journal of Molecular Biology, 2005
Muscular dystrophies arise with various mutations in dystrophin, implicating this protein in force transmission in normal muscle. With 24 three-helix, spectrin repeats interspersed with proline-rich hinges, dystrophin's large size is an impediment to gene therapy, prompting the construction of mini-dystrophins.
Nishant, Bhasin, Richard, Law, George, Liao, Daniel, Safer, Jennifer, Ellmer, Bohdana M, Discher, H Lee, Sweeney, Dennis E, Discher   +7 more
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Treatment of dystrophin cardiomyopathies

Nature Reviews Cardiology, 2014
Treatment of cardiac disease in patients with dystrophinopathies substantially improves outcomes. In this Review, we summarize and discuss findings from the past 20 years and future perspectives for therapeutic options to treat cardiovascular disease in these patients. Their cardiac disease can be subclinical or symptomatic.
Josef, Finsterer, Linda, Cripe
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The dystrophin connection — ATP?

Medical Hypotheses, 1992
Clinical evidence is presented supporting the hypothesis that the metabolic abnormality in the dystrophin-defective muscular dystrophies (DMD and BMD) involves the ATP pathway. Objective laboratory data show corrective trends in the abnormal values of parameters relating to creatine and calcium metabolism (ATP) by use of glucagon-stimulated c-AMP and ...
C A, Bonsett, A, Rudman
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A dystrophin missense mutation showing persistence of dystrophin and dystrophin‐associated proteins yet a severe phenotype

Annals of Neurology, 1998
AbstractA muscle biopsy from an X‐linked muscular dystrophy pedigree showed normal dystrophin and dystrophinassociated proteins. Linkage to multiple markers within the dystrophin gene (LOD = 2.7, ⊖ = O) indicated a primary dystrophinopathy. Sequencing of the entire dystrophin RNA revealed a single missense mutation (D3335H) in the unique carboxyl ...
L R, Goldberg, I, Hausmanowa-Petrusewicz, A, Fidzianska, D J, Duggan, L S, Steinberg, E P, Hoffman   +5 more
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Dystrophin and dystrophin-related protein expression in Torpedo marmorata electric organ

Neuroscience Letters, 1993
The presence of different dystrophin-related protein forms was investigated in electric organ as compared to cardiac, white or red skeletal muscles from Torpedo marmorata. Two strategies were followed. First, we used specific C-terminal dystrophin and dystrophin-related protein monoclonal antibodies which we characterized in the present study.
E, Fabbrizio, J, Leger, J J, Leger, D, Mornet   +3 more
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Dystrophin: A clinical perspective

Pediatric Neurology, 1990
Dystrophin, the protein product of the gene related to Duchenne and Becker muscular dystrophies, is a large cytoskeletal protein associated with the muscle fiber membrane. Recently identified dystrophin-related myopathies affecting animals can serve as experimental models for human disease.
openaire   +2 more sources