Article
A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch.
Neurobiology of disease - 1 Mar 2002
Amtul Zareen, Lewis Patrick A, Piper Sian, Crook Richard, Baker Matt, Findlay Kirk, Singleton Andrew, Hogg Marion, Younkin Linda, Younkin Steven G, Hardy John, Hutton Michael, Boeve Bradley F, Tang-Wai David, Golde Todd E
Abstract excerpt
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 Abeta42 levels, but instead acts as dominant negative presenilin, decreasing amyloid beta protein (Abeta) production by inhibiting gamma-secretase cleavage of the Abeta precursor. The distinct clinical phenotype...
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