Results 211 to 220 of about 23,715 (235)
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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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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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Expression of Dystrophins and the Dystrophin-Associated-Protein Complex by Pituicytes in Culture
Neurochemical Research, 2011The dystrophin-associated-protein complex (DAPC) has been extensively characterized in the central nervous system where it is localized both in neuronal and glial cells. Few studies have characterized this complex in the neurohypophysis. To further study this complex in pituicytes, the resident astroglia of the neurophypophysis, we used adult pituicyte
Serge Picaud +11 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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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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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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Dystrophin and dystrophin‐related protein in the brains of normal and mdx mice
Muscle & Nerve, 1994AbstractTo clarify the localization and characterization of dystrophin and dystrophin‐related protein (DRP) in the brains of normal and mdx mice, we carried out immunostaining and immunoblotting studies using four region‐specific antidystrophin and anti‐DRP antibodies. With immunostaining, punctate immunoreactivity of dystrophin was seen along the cell
Hiroaki Naoe +7 more
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Dystrophin and dystrophin-related proteins: A review of protein and RNA studies
Neuromuscular Disorders, 1993The analysis of dystrophin gene expression has led to the identification of multiple transcripts and varying isoforms. The data indicate that transcription of the dystrophin gene occurs from several promoters, which involves developmental and tissue-dependent regulation.
Donald R. Love +4 more
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