Arber C, Toombs J, Lovejoy C, Ryan NS, Paterson RW, Willumsen N, Gkanatsiou E, Portelius E, Blennow K, Heslegrave A, Schott JM, Hardy J, Lashley T, Fox NC, Zetterberg H, Wray S. Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta. Mol Psychiatry. 2019 Apr 12; PubMed.

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News

  1. Familial Alzheimer’s Mutations: Different Mechanisms, Same End Result

Mutations

  1. PSEN1 Y115H
  2. PSEN1 Y115D
  3. PSEN1 Y115C
  4. PSEN1 M139V
  5. PSEN1 M146I (G>A)
  6. PSEN1 M146I (G>C)
  7. PSEN1 R278I
  8. PSEN1 M146I (G>T)