A novel missense variant in ACAA1 contributes to early-onset Alzheimer’s disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline

A novel missense variant in ACAA1 contributes to early-onset Alzheimer’s disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline

Abstract 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...

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Bibliographic Details
Main Authors: Rongcan Luo, Yu Fan, Jing Yang, Maosen Ye, Deng-Feng Zhang, Kun Guo, Xiao Li, Rui Bi, Min Xu, Lu-Xiu Yang, Yu Li, Xiaoqian Ran, Hong-Yan Jiang, Chen Zhang, Liwen Tan, Nengyin Sheng, Yong-Gang Yao
Format: Article
Language:English
Published: Nature Publishing Group 2021-08-01
Series:Signal Transduction and Targeted Therapy
Online Access:https://doi.org/10.1038/s41392-021-00748-4

Internet

https://doi.org/10.1038/s41392-021-00748-4

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