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- W123874619 abstract "Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder. HD is caused by a CAG repeat expansion, and the resulting extended polyglutamine stretch confers a deleterious gain-of-function to the protein (huntingtin), leading to extensive neurodegeneration, predominantly in the striatum. Recent experimental evidence derived from genetic models of HD suggests that loss of normal huntingtin function might also contribute to HD pathogenesis. Huntingtin is a predominantly cytoplasmic protein, widely expressed during development and enriched in the adult brain and testes. Analyses of genetically engineered mice indicate that huntingtin is an essential protein involved in multiple processes, such as iron transport in early development, ependymal cell differentiation, neuronal migration, neuroprotection, regulation of body weight, and spermatogenesis, among others. Understanding the normal function of hungtingtin not only provides insight into HD pathology but also offers guidance for the development of more efficient therapeutic strategies." @default.
- W123874619 created "2016-06-24" @default.
- W123874619 creator A5031552464 @default.
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- W123874619 date "2015-01-01" @default.
- W123874619 modified "2023-09-25" @default.
- W123874619 title "Use of Genetically Engineered Mice to Study the Biology of Huntingtin" @default.
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- W123874619 doi "https://doi.org/10.1016/b978-0-12-405195-9.00032-9" @default.
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