Zhou R, Yang G, Shi Y. Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization. Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12731-12736. Epub 2017 Oct 9 PubMed.

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Mutations

  1. PSEN1 Y115H
  2. PSEN1 C410Y
  3. PSEN1 L435F
  4. PSEN1 L166P