Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β’-site increases Aβ generation Vrije Universiteit Brussel
BACE1 cleaves the amyloid precursor protein (APP) at the ?-cleavage site (Met671-Asp672) to initiate the generation of amyloid peptide A?. BACE1 is also known to cleave APP at a much less well-characterized ??-cleavage site (Tyr681-Glu682). We describe here the identification of a novel APP mutation E682K located at this ??-site in an early onset Alzheimer's disease (AD) case. Functional analysis revealed that this E682K mutation blocked the ...