. A loss of function mutant of the presenilin homologue SEL-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increases abeta 42 generation in human cells. J Biol Chem. 2000 Dec 29;275(52):40925-32. PubMed.

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  1. "Interesting insights into PS1 action and Ab production."

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Mutations

  1. PSEN1 C92S