@article{046fb86cd59746af83cadc0bc6fa36f1,
title = "A presenilin 1 mutation associated with familial frontotemporal dementia inhibits γ-secretase cleavage of APP and notch",
abstract = "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.",
author = "Zareen Amtul and Lewis, {Patrick A.} and Sian Piper and Richard Crook and Matt Baker and Kirk Findlay and Andrew Singleton and Marion Hogg and Linda Younkin and Younkin, {Steven G.} and John Hardy and Michael Hutton and Boeve, {Bradley F.} and David Tang-Wai and Golde, {Todd E.}",
note = "Funding Information: This work was supported by a grant from the NIH (NS39072) to T.E.G. We thank A. Fauq and C. Ziani-Cherif for the synthesis of Compound E and Paul Fraser for the anti-PS1 amino-terminal antibody.",
year = "2002",
month = mar,
doi = "10.1006/nbdi.2001.0473",
language = "English (US)",
volume = "9",
pages = "269--273",
journal = "Neurobiology of Disease",
issn = "0969-9961",
publisher = "Academic Press Inc.",
number = "2",
}