Article
The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.
Cell reports - 27 Nov 2013
Woodruff Grace, Young Jessica E, Martinez Fernando J, Buen Floyd, Gore Athurva, Kinaga Jennifer, Li Zhe, Yuan Shauna H, Zhang Kun, Goldstein Lawrence S B
Abstract excerpt
Presenilin 1 (PS1) is the catalytic core of γ-secretase, which cleaves type 1 transmembrane proteins, including the amyloid precursor protein (APP). PS1 also has γ-secretase-independent functions, and dominant PS1 missense mutations are the most common cause of familial Alzheimer's disease (FAD). Whether PS1 FAD mutations are gain- or loss-of-function remains controversial, primarily because most studies have...
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