Journal
NATURE REVIEWS GENETICS
Volume 6, Issue 10, Pages 756-765Publisher
NATURE PORTFOLIO
DOI: 10.1038/nrg1690
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Funding
- Intramural NIH HHS Funding Source: Medline
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The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of model systems for investigating disease mechanisms and evaluating treatments. Examination of experimental findings reveals similarities in disease mechanisms as well as possibilities for treatment.
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