Toglia P, Ullah G. The gain-of-function enhancement of IP3-receptor channel gating by familial Alzheimer's disease-linked presenilin mutants increases the open probability of mitochondrial permeability transition pore. Cell Calcium. 2016 Jul;60(1):13-24. Epub 2016 May 7 PubMed.

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Mutations

  1. PSEN1 M146L (A>C)
  2. PSEN1 M146L (A>T)