Denigma

PSEN1 mutation

Species: Human (Taxid: 9606)
Factor: PSEN1
Manipulation: Loss-of-Function, Mutation
Effect:

Mutations (more than 60 different) in PSEN1 are associated with Alzheimer's disease, of which all result in increased production of abnormally long amyloid beta-protein and an increase in senile plaque formation [10934557].


References:
  • 10934557: Molecular genetics of Alzheimer's disease: what have we learned?


    • Aging Relevance Analysis/Source:
  • GenAge
  • GenDR

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