Liu L, Lauro BM, Wolfe MS, Selkoe DJ. Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides. J Biol Chem. 2021;296:100393. Epub 2021 Feb 8 PubMed.

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Mutations

  1. PSEN1 R35Q
  2. PSEN1 A79V
  3. PSEN1 V96F
  4. PSEN1 F105I
  5. PSEN1 F105V
  6. PSEN1 F105L
  7. PSEN1 L113Q
  8. PSEN1 L113P
  9. PSEN1 Y115H
  10. PSEN1 Y115D
  11. PSEN1 Y115C
  12. PSEN1 T116N
  13. PSEN1 T116I
  14. PSEN1 P117A
  15. PSEN1 P117S
  16. PSEN1 P117R
  17. PSEN1 P117L
  18. PSEN1 E120K
  19. PSEN1 E120G
  20. PSEN1 E120D (A>C)
  21. PSEN1 L171P
  22. PSEN1 E184D
  23. PSEN1 G206A
  24. PSEN1 G217R
  25. PSEN1 Q223R
  26. PSEN1 L235P
  27. PSEN1 I238M
  28. PSEN1 T245P
  29. PSEN1 A246E
  30. PSEN1 A260V
  31. PSEN1 L282V
  32. PSEN1 L282R
  33. PSEN1 A426P
  34. PSEN1 T440del
  35. PSEN1 I83_M84del
  36. PSEN1 I168del (TATdel)
  37. PSEN1 S169del (S170del)
  38. PSEN1 S212Y
  39. PSEN1 E120D (A>T)
  40. PSEN1 I168del (TTAdel)
  41. PSEN1 F105C
  42. PSEN1 F176L
  43. PSEN1 T116R
  44. PSEN1 L150P
  45. PSEN1 L134R
  46. PSEN1 P117Q
  47. PSEN1 T116_P117delinsST

News

  1. iPSC-Derived Neurons Mirror LOAD Pathologies of Their Donors