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Marc Suárez-Calvet, Olivia Belbin, Marta Pera, Nahuai Badiola, Jordi Magrané, Cristina Guardia-Laguarta, Laia Muñoz, Martí Colom-Cadena, Jordi Clarimón and Alberto Lleó Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production Journal of Neurochemistry 128

Version of Record online: 24 OCT 2013 | DOI: 10.1111/jnc.12466

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The amyloid precursor protein (APP) I716F mutation is associated with autosomal dominant Alzheimer's disease with the youngest age-at-onset for the APP locus. Here, we describe that this mutation, when compared to two other familial Alzheimer's disease mutations at the same codon (I716V and I716T), interfered distinctly with γ-secretase cleavage. While all three mutations direct γ-secretase cleavage towards the 48[RIGHTWARDS ARROW]38 production line, the APP I716F mutation also impaired the ε-cleavage and the fourth cleavage of γ-secretase, resembling a PSEN1 mutation. These features may contribute to the aggressiveness of this mutation.

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