Steiner H, Romig H, Grim MG, Philipp U, Pesold B, Citron M, Baumeister R, Haass C. The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing. J Biol Chem. 1999 Mar 19;274(12):7615-8. PubMed.

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Mutations

  1. PSEN1 S290_S319delinsC (ΔE9)
  2. PSEN1 S290_S319delinsC (ΔE9Finn)
  3. PSEN1 c.869-22_869-23ins18 (ΔE9)
  4. PSEN1 S290_S319delinsC G>A (ΔE9)
  5. PSEN1 S290_S319delinsC G>T (ΔE9)
  6. PSEN1 S290_S319delinsC A>G (ΔE9)
  7. PSEN1 c.856+3089_943+467del (ΔE9)

News

  1. Sole Perp—PS1 Alone Reconstitutes γ-Secretase Activity