. Familial Alzheimer's disease mutations inhibit gamma-secretase-mediated liberation of beta-amyloid precursor protein carboxy-terminal fragment. J Neurochem. 2005 Sep;94(5):1189-201. PubMed.

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  1. FAD mutations inhibit cleavage at the ε site of many PS/γ-secretase substrates. Inhibition at the ε site is predicted to increase cleavage at the γ site, thus increasing Aβ production. This paper offers experimental evidence for this concept.

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