A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch

A Presenilin 1 Mutation Associated with Familial Frontotemporal Dementia Inhibits γ-Secretase Cleavage of APP and Notch

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) prod...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2002-03-01
Series:Neurobiology of Disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996101904735

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http://www.sciencedirect.com/science/article/pii/S0969996101904735

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