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

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 mutation...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408221/
https://www.ncbi.nlm.nih.gov/pubmed/34465723
http://dx.doi.org/10.1038/s41392-021-00748-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8408221/
https://www.ncbi.nlm.nih.gov/pubmed/34465723
http://dx.doi.org/10.1038/s41392-021-00748-4

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