Article
The APOE-R136S mutation protects against APOE4-driven Tau pathology, neurodegeneration and neuroinflammation.
Nature neuroscience - 1 Dec 2023
Nelson Maxine R, Liu Peng, Agrawal Ayushi, Yip Oscar, Blumenfeld Jessica, Traglia Michela, Kim Min Joo, Koutsodendris Nicole, Rao Antara, Grone Brian, Hao Yanxia, Yoon Seo Yeon, Xu Qin, De Leon Samuel, Choenyi Tenzing, Thomas Reuben, Lopera Francisco, Quiroz Yakeel T, Arboleda-Velasquez Joseph F, Reiman Eric M, Mahley Robert W, Huang Yadong
Abstract excerpt
Apolipoprotein E4 (APOE4) is the strongest genetic risk factor for late-onset Alzheimer's disease (LOAD), leading to earlier age of clinical onset and exacerbating pathologies. There is a critical need to identify protective targets. Recently, a rare APOE variant, APOE3-R136S (Christchurch), was found to protect against early-onset AD in a PSEN1-E280A carrier. In this study, we sought to determine if the R136S...
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