A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.
Luo R, Fan Y, Yang J, Ye M, Zhang DF, Guo K, Li X, Bi R, Xu M, Yang LX, et al. Signal Transduct Target Ther. 2021 Aug 31; 6(1):325. Epub 2021 Aug 31.