Article
Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer's disease: analysis of Osaka mutation-knockin mice.
Acta neuropathologica communications - 31 Jul 2017
Umeda Tomohiro, Kimura Tetsuya, Yoshida Kayo, Takao Keizo, Fujita Yuki, Matsuyama Shogo, Sakai Ayumi, Yamashita Minato, Yamashita Yuki, Ohnishi Kiyouhisa, Suzuki Mamiko, Takuma Hiroshi, Miyakawa Tsuyoshi, Takashima Akihiko, Morita Takashi, Mori Hiroshi, Tomiyama Takami
Abstract excerpt
The E693Δ (Osaka) mutation in APP is linked to familial Alzheimer's disease. While this mutation accelerates amyloid β (Aβ) oligomerization, only patient homozygotes suffer from dementia, implying that this mutation is recessive and causes loss-of-function of amyloid precursor protein (APP). To investigate the recessive trait, we generated a new mouse model by knocking-in the Osaka mutation into endogenous mouse...
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