Article
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.
Nature neuroscience - 1 Sept 2001
Nilsberth C, Westlind-Danielsson A, Eckman C B, Condron M M, Axelman K, Forsell C, Stenh C, Luthman J, Teplow D B, Younkin S G, Näslund J, Lannfelt L
Abstract excerpt
Several pathogenic Alzheimer's disease (AD) mutations have been described, all of which cause increased amyloid beta-protein (Abeta) levels. Here we present studies of a pathogenic amyloid precursor protein (APP) mutation, located within the Abeta sequence at codon 693 (E693G), that causes AD in a Swedish family. Carriers of this 'Arctic' mutation showed decreased Abeta42 and Abeta40 levels in plasma....
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