Article
Identification of rare RTN3 variants in Alzheimer's disease in Han Chinese.
Human genetics - 1 Feb 2018
Zou Yongyi, He Wanxia, Wang Kangli, Han Hailong, Xiao Tingting, Chen Xumeng, Zhou Bin, Tan Jieqiong, Xia Kun, Tang Beisha, Chen Chao, Shen Lu, Yan Riqiang, Zhang Zhuohua
Abstract excerpt
Reticulon 3 (RTN3) is a neuronally-expressed reticulon family protein that was previously shown to negatively regulate BACE1, a protease that is required for the generation of β-amyloid peptides (Aβ) from amyloid precursor protein. Despite biochemical and morphological evidence that supports a role of RTN3 in the formation of neuritic amyloid plaques, no systematic analyses of RTN3 mutations in patients with...
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