Results 301 to 310 of about 59,671 (341)
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Molecular Extensibility of Mini-dystrophins and a Dystrophin Rod Construct
Journal of Molecular Biology, 2005Muscular 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.
Daniel Safer +7 more
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A quantitative ELISA for dystrophin
Journal of Immunological Methods, 1993A novel approach to the quantitation of the muscular dystrophy protein, dystrophin, in muscle extracts is described. The two-site ELISA uses two monoclonal antibodies against dystrophin epitopes which lie close together in the rod domain of the dystrophin molecule in order to minimize the effects of dystrophin degradation.
Nguyen thi Man +2 more
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Dystrophin and related proteins
Current Opinion in Genetics & Development, 1993During 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.
Derek J. Blake +5 more
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Dystrophin and the membrane skeleton
Current Opinion in Cell Biology, 1993Recent studies have confirmed several predictions concerning the structure and possible function of dystrophin, including a direct interaction with F-actin and an indirect interaction with laminin via linkage through a transmembrane protein complex. The results of the past year support a role for dystrophin in linking the actin cytoskeleton with the ...
James M. Ervasti, Kevin P. Campbell
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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 ...
Laura R. Goldberg +5 more
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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 ...
Laura R. Goldberg +5 more
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Gentamicin fails to increase dystrophin expression in dystrophin‐deficient muscle
Muscle & Nerve, 2003AbstractA 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.
Patrick Dunant +3 more
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Biochemistry, 1993
Dystrophin, an elongated cytoskeletal molecule which is deficient in Duchenne muscular disease, contains an actin-binding domain in its N-terminal portion. We show that this part interacted with actin in the native molecule. By molecular biology techniques, four recombinant proteins were expressed in Escherichia coli using the pMAL vector which allowed
Dominique Mornet +3 more
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Dystrophin, an elongated cytoskeletal molecule which is deficient in Duchenne muscular disease, contains an actin-binding domain in its N-terminal portion. We show that this part interacted with actin in the native molecule. By molecular biology techniques, four recombinant proteins were expressed in Escherichia coli using the pMAL vector which allowed
Dominique Mornet +3 more
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The muscular dystrophies and dystrophin
Current Opinion in Neurology, 1993Recent progress in molecular genetics has resulted in more insight in the molecular biology of muscles and the muscular dystrophies, and has provided more reliable tools for prenatal and presymptomatic diagnosis in several disorders. The state of research is reviewed with emphasis on genetic aspects.
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The dystrophin connection — ATP?
Medical Hypotheses, 1992Clinical 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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Treatment of dystrophin cardiomyopathies
Nature Reviews Cardiology, 2014Treatment 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.
Linda H. Cripe, Josef Finsterer
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