Heilig EA, Xia W, Shen J, Kelleher RJ. A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity. J Biol Chem. 2010 Jul 16;285(29):22350-9. PubMed.

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This paper appears in the following:

Mutations

  1. PSEN1 L435F
  2. PSEN1 P436S

Research Models

  1. Psen1 L435F knock-in