Article
A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Signal transduction and targeted therapy - 31 Aug 2021
Luo Rongcan, Fan Yu, Yang Jing, Ye Maosen, Zhang Deng-Feng, Guo Kun, Li Xiao, Bi Rui, Xu Min, Yang Lu-Xiu, Li Yu, Ran Xiaoqian, Jiang Hong-Yan, Zhang Chen, Tan Liwen, Sheng Nengyin, Yao Yong-Gang
Abstract excerpt
Alzheimer's disease (AD) is characterized by progressive synaptic dysfunction, neuronal death, and brain atrophy, with amyloid-β (Aβ) plaque deposits and hyperphosphorylated tau neurofibrillary tangle accumulation in the brain tissue, which all lead to loss of cognitive function. Pathogenic mutations in the well-known AD causal genes including APP, PSEN1, and PSEN2 impair a variety of pathways, including protein...
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