Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Specific Mutations near the Amyloid Precursor Protein Cleavage Site Increase γ-Secretase Sensitivity and Modulate Amyloid-β Production.
Suzuki R et al.
International Journal of Molecular Sciences, 2023
Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.
Abondio P et al.
International Journal of Molecular Sciences, 2022
Don't forget to be picky - selective autophagy of protein aggregates in neurodegenerative diseases.
Simonsen A et al.
Current Opinion in Cell Biology, 2022
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Liu Y et al.
Frontiers in Aging Neuroscience, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
The Genetics of Alzheimer's Disease in the Chinese Population.
Gan CL et al.
International Journal of Molecular Sciences, 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Guyon A et al.
Plos One, 2020
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
Zhang G et al.
Journal of the Neurological Sciences, 2017
A Novel AβPP M722K Mutation Affects Amyloid-β Secretion and Tau Phosphorylation and May Cause Early-Onset Familial Alzheimer's Disease in Chinese Individuals.
Wang Q et al.
Journal of Alzheimer's Disease : Jad, 2015