The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Charles ArberChristopher R S BelderFilip TomczukRebecca GabrieleYazead BuhidmaClíona FarrellAntoinette O'ConnorHelen RiceTammaryn LashleyNick C FoxNatalie S RyanSelina WrayPublished in: Alzheimer's & dementia : the journal of the Alzheimer's Association (2024)
PSEN1 P436S mutations cause familial Alzheimer's disease. This mutation is associated with atypical clinical presentation. Induced pluripotent stem cells (iPSCs) and post-mortem studies support increased amyloid beta (Aβ43) production. Early age at onset highlights the importance of the PALP motif in PSEN1 function.