Article
Deep sequencing of the Nicastrin gene in pooled DNA, the identification of genetic variants that affect risk of Alzheimer's disease.
PloS one - 25 Feb 2011
Lupton Michelle K, Proitsi Petroula, Danillidou Makrina, Tsolaki Magda, Hamilton Gillian, Wroe Richard, Pritchard Megan, Lord Kathryn, Martin Belinda M, Kloszewska Iwona, Soininen Hilkka, Mecocci Patrizia, Vellas Bruno, Harold Denise, Hollingworth Paul, Lovestone Simon, Powell John F
Abstract excerpt
Nicastrin is an obligatory component of the γ-secretase; the enzyme complex that leads to the production of Aβ fragments critically central to the pathogenesis of Alzheimer's disease (AD). Analyses of the effects of common variation in this gene on risk for late onset AD have been inconclusive. We investigated the effect of rare variation in the coding regions of the Nicastrin gene in a cohort of AD patients and...
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