Odorčić I, Hamed MB, Lismont S, Chávez-Gutiérrez L, Efremov RG. Apo and Aβ46-bound γ-secretase structures provide insights into amyloid-β processing by the APH-1B isoform. Nat Commun. 2024 May 27;15(1):4479. PubMed.

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Mutations

  1. PSEN1 Y115H
  2. PSEN1 Y115D
  3. PSEN1 Y115C
  4. PSEN1 W165G
  5. PSEN1 W165C (G>C)
  6. PSEN1 S169P
  7. PSEN1 S169L
  8. PSEN1 G384A
  9. PSEN1 S169del (S170del)
  10. PSEN1 P88L
  11. PSEN1 W165C (G>T)
  12. PSEN1 P88H
  13. PSEN1 P88R