Article
Targeted introduction of V642I mutation in amyloid precursor protein gene causes functional abnormality resembling early stage of Alzheimer's disease in aged mice.
The European journal of neuroscience - 1 May 2004
Kawasumi Masaoki, Chiba Tomohiro, Yamada Marina, Miyamae-Kaneko Makiko, Matsuoka Masaaki, Nakahara Jin, Tomita Taisuke, Iwatsubo Takeshi, Kato Shigeaki, Aiso Sadakazu, Nishimoto Ikuo, Kouyama Keisuke
Abstract excerpt
While the exact aetiology of Alzheimer's disease (AD) is unknown, distinct genetic mutations have been identified for the rare cases of familial AD (FAD). V642I mutation in amyloid precursor protein (APP) co-segregates with FAD with perfect penetration, and the clinicopathological characteristics of patients with this mutation resemble that of sporadic AD. To examine the pathogenic process of this FAD-linked...
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