Pérez-Revuelta BI, Fukumori A, Lammich S, Yamasaki A, Haass C, Steiner H. Requirement for small side chain residues within the GxGD-motif of presenilin for gamma-secretase substrate cleavage. J Neurochem. 2010 Feb;112(4):940-50. Epub 2009 Dec 15 PubMed.

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Mutations

  1. PSEN1 G384A