Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease
β Scribed by De Strooper, Bart
- Book ID
- 110033243
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 240 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1469-221X
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## Abstract Accumulating evidence has indicated that gainβofβfunction in Ξ²βamyloid production may be not the necessary mechanism for mutant presenilinβ1 (PS1) or PS2 to cause familial Alzheimer's disease (AD). In the present article, we show that conditional knockout of PS1 from the adult stage in
Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A4