Oksanen M, Hyötyläinen I, Trontti K, Rolova T, Wojciechowski S, Koskuvi M, Viitanen M, Levonen AL, Hovatta I, Roybon L, Lehtonen Š, Kanninen KM, Hämäläinen RH, Koistinaho J. NF-E2-related factor 2 activation boosts antioxidant defenses and ameliorates inflammatory and amyloid properties in human Presenilin-1 mutated Alzheimer's disease astrocytes. Glia. 2020 Mar;68(3):589-599. Epub 2019 Oct 31 PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC (ΔE9)
  2. PSEN1 S290_S319delinsC (ΔE9Finn)
  3. PSEN1 S290_S319delinsC G>A (ΔE9)
  4. PSEN1 S290_S319delinsC G>T (ΔE9)
  5. PSEN1 S290_S319delinsC A>G (ΔE9)