Shioi J, Georgakopoulos A, Mehta P, Kouchi Z, Litterst CM, Baki L, Robakis NK. FAD mutants unable to increase neurotoxic Abeta 42 suggest that mutation effects on neurodegeneration may be independent of effects on Abeta. J Neurochem. 2007 May;101(3):674-81. Epub 2007 Jan 24 PubMed.

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Mutations

  1. PSEN1 V82L
  2. PSEN1 Y115H
  3. PSEN1 M139V
  4. PSEN1 M146L (A>C)
  5. PSEN1 M146L (A>T)