Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy
Article Abstract:
A study was conducted on cardiac and skeletal myopathies in dystrophin- and utrophin-deficient mice. Utrophin deficiency, which adversely affects synaptic development in humans, was found to cause minimal neuromuscular defects in mice. Mice subjected to mild phenotypes of the two single mutants exhibited severe dystrophy similar to the Duchenne muscular dystrophy. Results, which provide a suitable model for Duchenne muscular dystrophy therapy and pathogenesis, indicate that utrophin enhances the adverse effects of dystrophin deficiency.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1997
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Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha 1-syntrophin mediated by PDZ domains
Article Abstract:
The PDZ domains in the structure of the neural enzyme neuronal nitric oxide synthase are also present in two of its protein substrates, postsynaptic density protein 95 and 93 (PSD-95 and PSD-93). The PDZ domains of nNOS and PDS-95 interact so that nNOS can bind with syntrophin in the sarcolemma. The absence of PDZ domains in mutant mice nNOS prevents them from binding with PDZ, and points to the way nNOS is targeted towards membrane structures.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1996
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Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
Article Abstract:
Dystrophin, the protein mutated in Duchenne muscular dystrophyin, is active in detaching neuronal-type nitric oxide synthase (nNOS) to skeletal muscle sarcolemma. The dystrophin complex interacts with an N-terminal domain of nNOS consisting of a GLGF motif. The abnormal nNOS regulation may help in the preferential degeneration of fast-twitch muscle fibers in DMD.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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