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
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
The pathogenic APP N-terminal Val225Ala mutation alters tau protein liquid-liquid phase separation and exacerbates synaptic damage.
Chen J et al.
Molecular Psychiatry, 2025
Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.
Wightman DP et al.
Scientific Reports, 2023
36750708 (PubMed )
Supplement: 41598_2023_29108_MOESM1_ESM.xlsx › Supp_T11
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
36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1
AmazonForest: In Silico Metaprediction of Pathogenic Variants.
Palheta HGA et al.
Biology, 2022
An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.
Zhang X et al.
The Journal of Experimental Medicine, 2021
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 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
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Nicolas G et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2018
30114415 (PubMed )
Supplement: EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx › Table_S6_APPPS1PS2_NS_1_
Amyloid precursor protein gene (APP) variation in late-onset Alzheimer's disease.
Miar A et al.
Journal of Molecular Neuroscience : Mn, 2011
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