The structural and functional diversity of dystrophin

@article{Ahn1993TheSA,
  title={The structural and functional diversity of dystrophin},
  author={A. H. Ahn and L. Kunkel},
  journal={Nature Genetics},
  year={1993},
  volume={3},
  pages={283-291}
}
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene. Expression of this large X-linked gene is under elaborate transcriptional and splicing control. At least five independent promoters specify the transcription of their respective alternative first exons in a cell-specific and developmentally controlled manner. Three promoters express full-length dystrophin, while two promoters near the C terminus express the last domains in a mutually exclusive manner. Six… Expand
The emerging family of dystrophin-related proteins.
TLDR
Duchenne and Becker muscular dystrophy are caused by mutations in the gene encoding dystrophin, a component of the subsarcolemmal cytoskeleton, a part of the neuromuscular junction. Expand
The dystrophin gene is alternatively spliced throughout its coding sequence
We have analysed splicing patterns in the human dystrophin gene region encoding the rod and cysteine‐rich domains in normal skeletal muscle, brain and heart tissues. Sixteen novel alternativeExpand
The role of utrophin in the potential therapy of Duchenne muscular dystrophy
TLDR
Interest in the identification and manipulation of important regulatory regions and/or molecules that increase the expression of utrophin and their delivery to dystrophin-deficient tissue and as pre-existing cellular mechanisms are utilized, this approach would avoid many problems associated with conventional gene therapies. Expand
Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform.
TLDR
Results indicate that viral delivery of dystrophin to a simple majority of fibers in a muscle group would greatly reduce the dystrophic pathology associated with Duchenne muscular dystrophy. Expand
Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy
TLDR
It is suggested that the aberrantly spliced dystrophin is responsible for the muscle wasting in DM1. Expand
Alternative Promoters: Duchenne Muscular Dystrophy (DMD) Gene
TLDR
The Duchenne muscular dystrophy gene is the largest and one of the most complex genes known to date, and four 5′ promoters regulate the expression of full-length gene product, the protein called dystrophin. Expand
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse.
  • C. Mann, K. Honeyman, +6 authors S. Wilton
  • Medicine, Biology
  • Proceedings of the National Academy of Sciences of the United States of America
  • 2001
TLDR
This approach should reduce the severity of DMD by allowing a dystrophic gene transcript to be modified, such that it can be translated into a Becker-dystrophin-like protein. Expand
Redirecting splicing to address dystrophin mutations: molecular by-pass surgery.
TLDR
From interesting in vitro experiments several years ago, the dystrophin exon-skipping field has progressed to the stage of planning for clinical trials, which may be regarded as a form of by-pass surgery at the molecular level. Expand
Dystrophin and utrophin: Genetic analyses of their role in skeletal muscle
TLDR
These animal models have led to a delineation of protein functions and localization patterns that will be useful for the generation of potential therapies for DMD, and are presented in the context of other known interactions at the muscle membrane. Expand
Molecular Genetics of Dystrophinopathies
TLDR
The commonest mutational event in the dystrophin gene is represented by intragenic deletions accounting for 65% of dyStrophin mutations, and frame-shift mutations are related to the absence of protein production and a DMD phenotype. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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