陶氏病
进行性核上麻痹
病理学
皮质基底变性
突变
神经科学
突变试验
点突变
生物
病理
心理学
医学
遗传学
疾病
神经退行性变
基因
作者
Daiki Tanaka,Hiroaki Yaguchi,Kaichi Yoshizaki,Akihiko Kudo,Fumiaki Mori,Taichi Nomura,Jing Pan,Yasuo Miki,Hidehisa Takahashi,Taichi Hara,Koichi Wakabayashi,Ichiro Yabe
标识
DOI:10.3389/fnins.2024.1414145
摘要
Tauopathy is known to be a major pathognomonic finding in important neurodegenerative diseases such as progressive supranuclear palsy (PSP) and corticobasal degeneration. However, the mechanism by which tauopathy is triggered remains to be elucidated. We previously identified the point mutation c.11596C > G, p.Pro3866Ala in the
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