The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Aβ protofibril formation

@article{Nilsberth2001TheA,
  title={The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced A$\beta$ protofibril formation},
  author={C. Nilsberth and A. Westlind-Danielsson and C. Eckman and M. Condron and K. Axelman and C. Forsell and C. Stenh and J. Luthman and D. Teplow and S. Younkin and J. N{\"a}slund and L. Lannfelt},
  journal={Nature Neuroscience},
  year={2001},
  volume={4},
  pages={887-893}
}
Several pathogenic Alzheimer's disease (AD) mutations have been described, all of which cause increased amyloid β-protein (Aβ) levels. Here we present studies of a pathogenic amyloid precursor protein (APP) mutation, located within the Aβ sequence at codon 693 (E693G), that causes AD in a Swedish family. Carriers of this 'Arctic' mutation showed decreased Aβ42 and Aβ40 levels in plasma. Additionally, low levels of Aβ42 were detected in conditioned media from cells transfected with APPE693G… Expand
The Arctic AβPP mutation leads to Alzheimer’s disease pathology with highly variable topographic deposition of differentially truncated Aβ
Autosomal‐dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production
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