Do HN, Devkota S, Bhattarai A, Wolfe MS, Miao Y. Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein. Commun Biol. 2023 Feb 14;6(1):174. PubMed.

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Mutations

  1. PSEN1 P117L
  2. PSEN1 I143T
  3. PSEN1 G384A
  4. PSEN1 L435F
  5. PSEN1 L286V
  6. PSEN1 L166P