Article
Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.
EMBO molecular medicine - 1 Jul 2012
Kaden Daniela, Harmeier Anja, Weise Christoph, Munter Lisa M, Althoff Veit, Rost Benjamin R, Hildebrand Peter W, Schmitz Dietmar, Schaefer Michael, Lurz Rudi, Skodda Sabine, Yamamoto Raina, Arlt Sönke, Finckh Ulrich, Multhaup Gerd
Abstract excerpt
Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. The K16N mutation is located exactly at the α-secretase cleavage site and influences both APP and Aβ. First, due...
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