. Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation. EMBO Rep. 2020 Jan 7;21(1):e47996. Epub 2019 Nov 25 PubMed.

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Mutations

  1. PSEN1 A246E
  2. PSEN1 Y256S
  3. PSEN1 V261F
  4. PSEN1 R278I
  5. PSEN1 L435F
  6. PSEN1 L166P

Therapeutics

  1. RG6289