Islam S, Sun Y, Gao Y, Nakamura T, Noorani AA, Li T, Wong PC, Kimura N, Matsubara E, Kasuga K, Ikeuchi T, Tomita T, Zou K, Michikawa M. Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis. J Neurosci. 2022 Feb 23;42(8):1574-1586. Epub 2022 Jan 5 PubMed.

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Mutations

  1. PSEN1 E123K
  2. PSEN1 M139V
  3. PSEN1 M146I (G>A)
  4. PSEN1 M146I (G>C)
  5. PSEN1 P264L
  6. PSEN1 E273A
  7. PSEN1 L282F
  8. PSEN1 G384A
  9. PSEN1 L420R
  10. PSEN1 M146I (G>T)
  11. PSEN1 G209A
  12. PSEN1 P88L
  13. PSEN1 L418W