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Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer’s disease: analysis of Osaka mutation-knockin mice

Abstract 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)...

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Main Authors: Tomohiro Umeda, Tetsuya Kimura, Kayo Yoshida, Keizo Takao, Yuki Fujita, Shogo Matsuyama, Ayumi Sakai, Minato Yamashita, Yuki Yamashita, Kiyouhisa Ohnishi, Mamiko Suzuki, Hiroshi Takuma, Tsuyoshi Miyakawa, Akihiko Takashima, Takashi Morita, Hiroshi Mori, Takami Tomiyama
Format: Artigo
Language:Inglês
Published: BMC 2017-07-01
Series:Acta Neuropathologica Communications
Subjects:
Alzheimer’s disease
Recessive mutation
Knockin mouse
Loss of function
GABA
Online Access:http://link.springer.com/article/10.1186/s40478-017-0461-5
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