Sato C, Takagi S, Tomita T, Iwatsubo T. The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase. J Neurosci. 2008 Jun 11;28(24):6264-71. PubMed.

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Mutations

  1. PSEN1 A434C
  2. PSEN1 L435F
  3. PSEN1 P436S
  4. PSEN1 P436Q
  5. PSEN1 A434T
  6. PSEN1 P433S
  7. PSEN1 A434V

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