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- W2032914008 abstract "Lack of expression of a single gene, dystrophin, causes the severe, progressive muscle wasting and mental deficits characteristic of Duchenne muscular dystrophy. In this work, we investigated the impact of dystrophin deletion on expression of other genes in the brain cortex, hippocampus and cerebellum using the murine homologue, the mdx mouse, and RT-PCR. Expression of the brain glucose transporters GLUT1 and GLUT2 was found to be decreased, as were some subunits of the GABAA and nicotinic acetylcholine receptors. Genes involved in bioenergetic homeostasis, such as the mitochondrial creatine kinase and the gamma subunit of ATP synthase were also found to be abnormally expressed, while expression of the structural proteins beta-dystrobrevin and rapsyn was also significantly affected.We relate these findings to known functional deficits and discuss the possible mechanisms behind the altered gene expression." @default.
- W2032914008 created "2016-06-24" @default.
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- W2032914008 creator A5071349026 @default.
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- W2032914008 date "2004-01-01" @default.
- W2032914008 modified "2023-10-16" @default.
- W2032914008 title "For want of a nail. ramifications of a single gene deletion, dystrophin, in the brain of the mouse" @default.
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- W2032914008 doi "https://doi.org/10.2741/1209" @default.
- W2032914008 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14766346" @default.
- W2032914008 hasPublicationYear "2004" @default.
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