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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

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 inve...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5537936/
https://www.ncbi.nlm.nih.gov/pubmed/28760161
http://dx.doi.org/10.1186/s40478-017-0461-5