| Autor: |
Zareen Amtul, Patrick A. Lewis, Sian Piper, Richard Crook, Matt Baker, Kirk Findlay, Andrew Singleton, Marion Hogg, Linda Younkin, Steven G. Younkin, John Hardy, Michael Hutton, Bradley F. Boeve, David Tang-Wai, Todd E. Golde |
| Jazyk: |
angličtina |
| Rok vydání: |
2002 |
| Předmět: |
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| Zdroj: |
Neurobiology of Disease, Vol 9, Iss 2, Pp 269-273 (2002) |
| Druh dokumentu: |
article |
| ISSN: |
1095-953X |
| DOI: |
10.1006/nbdi.2001.0473 |
| Popis: |
A novel presenilin 1 mutation, insR352, associated with a frontal temporal dementia phenotype has been identified (E. A. Rogaeva et al., 2001, Neurology 57, 621–625). This mutation does not increase Aβ42 levels, but instead acts as dominant negative presenilin, decreasing amyloid β protein (Aβ) production by inhibiting γ-secretase cleavage of the Aβ precursor. The distinct clinical phenotype associated with this mutation suggests that chronic partial inhibition of γ-secretase activity may result in neurodegeneration. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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Full Text from ScienceDirect