The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.

@article{Woodruff2013TheP,
  title={The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.},
  author={Grace Woodruff and Jessica Young and Fernando Jose Martinez and Floyd Buen and Athurva Gore and Jennifer L Kinaga and Zhe Li and Shauna H Yuan and Kun Qiu Zhang and Lawrence S. B. Goldstein},
  journal={Cell reports},
  year={2013},
  volume={5 4},
  pages={974-85}
}
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 relied on overexpression in mouse and/or nonneuronal systems. We used isogenic euploid… CONTINUE READING
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