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Neuromuscular Disorders, 1993
The respective localizations of dystrophin and dystrophin-related protein (DRP or utrophin) along the sarcolemmal membrane and at the neuromuscular junctions (NMJs) in normal and dystrophin-deficient skeletal muscles, were determined using confocal laser microscopy. The analysis was prompted by the recent availability of a new anti-utrophin mAb [Bewick
J J Leger, L V Nicholson
exaly +3 more sources
The respective localizations of dystrophin and dystrophin-related protein (DRP or utrophin) along the sarcolemmal membrane and at the neuromuscular junctions (NMJs) in normal and dystrophin-deficient skeletal muscles, were determined using confocal laser microscopy. The analysis was prompted by the recent availability of a new anti-utrophin mAb [Bewick
J J Leger, L V Nicholson
exaly +3 more sources
Functions of dystrophin and dystrophin associated proteins
Current Opinion in Neurology, 1997Dystrophin is a protein product of the X-linked gene mutation that is responsible for Duchenne and Becker muscular dystrophies. The protein binds actin and associates with dystrophin-glycoprotein complex to link the cytoskeleton to the extracellular matrix.
M, Michalak, M, Opas
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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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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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Molecular Aspects of Medicine, 1991
Recent advances concerning the genetic and biochemical basis of Duchenne and Becker muscular dystrophies have resulted in a good understanding of the etiology of these common dystrophies. An important secondary consequence of the genetic and biochemical research has been the generation of gene-based and protein-based diagnostic tools which enable a ...
E P, Hoffman, L, Schwartz
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Recent advances concerning the genetic and biochemical basis of Duchenne and Becker muscular dystrophies have resulted in a good understanding of the etiology of these common dystrophies. An important secondary consequence of the genetic and biochemical research has been the generation of gene-based and protein-based diagnostic tools which enable a ...
E P, Hoffman, L, Schwartz
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Dynamic restoration of dystrophin to dystrophin-deficient myotubes
Muscle & Nerve, 2001Dystrophin domains are observed in myoblast transplantation experiments and in muscle fibers after somatic reversion in human Duchenne and mdx mouse muscular dystrophy. However, the formation and evolution of dystrophin-positive domains are not well established.
J, Kong, J E, Anderson
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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.
Nishant, Bhasin +7 more
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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 ...
L 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 ...
L R, Goldberg +5 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.
Josef, Finsterer, Linda, Cripe
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