Elsworthy RJ, King MC, Grainger A, Fisher E, Crowe JA, Alqattan S, Ludlam A, Hill DE, Aldred S. Amyloid-β precursor protein processing and oxidative stress are altered in human iPSC-derived neuron and astrocyte co-cultures carrying presenillin-1 gene mutations following spontaneous differentiation. Mol Cell Neurosci. 2021 Jul;114:103631. Epub 2021 May 20 PubMed.

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Mutations

  1. PSEN1 R278I
  2. PSEN1 L286V