Associated Papers
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Anderson EN et al.
American Journal of Human Genetics, 2026
41468891 (PubMed )
Supplement: mmc3.pdf
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
Identification and characterization of variants in PSEN1, PSEN2, and APP genes in Chinese patients with early-onset Alzheimer's disease.
Nan H et al.
Alzheimer's Research & Therapy, 2025
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
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