Han J, Park H, Maharana C, Gwon AR, Park J, Baek SH, Bae HG, Cho Y, Kim HK, Sul JH, Lee J, Kim E, Kim J, Cho Y, Park S, Palomera LF, Arumugam TV, Mattson MP, Jo DG. Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function. Theranostics. 2021;11(18):8855-8873. Epub 2021 Aug 17 PubMed.

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Mutations

  1. PSEN1 M146V
  2. PSEN1 H163R
  3. PSEN1 E280A (Paisa)
  4. PSEN1 A431E