Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses

@article{Ct1999ChimaericMD,
  title={Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses},
  author={Patrice D. C{\^o}t{\'e} and Hakima Moukhles and Michael H. Lindenbaum and Salvatore Carbonetto},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={338-342}
}
Mutations in the dystrophin gene (DMD) and in genes encoding several dystrophin-associated proteins result in Duchenne and other forms of muscular dystrophy. α-Dystroglycan (Dg) binds to laminins in the basement membrane surrounding each myofibre and docks with β-Dg, a transmembrane protein, which in turn interacts with dystrophin or utrophin in the subplasmalemmal cytoskeleton. α- and β-Dgs are thought to form the functional core of a larger complex of proteins extending from the basement… 

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TLDR
This review focuses specifically on the animal model systems that have been developed with the aim of directly engineering DAG1 in order to study the DG function in skeletal muscle as well as in other tissues.

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TLDR
The role of the dystrophin complex and protein family in muscle is discussed and the physiological processes that are affected in Duchenne muscular dystrophy are described.

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TLDR
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TLDR
Focus on recent studies of the DGC in brain, blood-brain barrier and choroid plexus, retina, and kidney and discusses the role of dystrophin isoforms and utrophin for assembly of the complex in these tissues.

Overexpression of the cytotoxic T cell GalNAc transferase in skeletal muscle inhibits muscular dystrophy in mdx mice

TLDR
It is shown that transgenic overexpression of the synaptic CT GalNAc transferase in the skeletal muscles of mdx animals (mdx/CT) increases the expression of utrophin and many DAPs, including dystroglyCans, sarcoglycans, and dystrobrevins, along myofibers, and should be considered as a target for therapeutic intervention in DMD.

Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice.

TLDR
It is demonstrated that, in addition to muscle degeneration and dystrophy, impaired neuromuscular transmission contributes to muscle weakness in dystrophic myd mice and that the noted defects are primarily due to the effects of LARGE and glycosylated dystroglycan in stabilizing the endplate of the NMJ.
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