Journal
NATURE REVIEWS NEUROSCIENCE
Volume 6, Issue 12, Pages 919-930Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrn1806
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Funding
- Telethon [GGP02215] Funding Source: Medline
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Several neurological diseases are characterized by the altered activity of one or a few ubiquitously expressed cell proteins, but it is not known how these normal proteins turn into harmful executors of selective neuronal cell death. We selected huntingtin in Huntington's disease to explore this question because the dominant inheritance pattern of the disease seems to exclude the possibility that the wild-type protein has a role in the natural history of this condition. However, even in this extreme case, there is considerable evidence that normal huntingtin is important for neuronal function and that the activity of some of its downstream effectors, such as brain-derived neurotrophic factor, is reduced in Huntington's disease.
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