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
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
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.
Saraceno C et al.
International Journal of Molecular Sciences, 2024
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
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
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
Somatic APP gene recombination in Alzheimer's disease and normal neurons.
Lee MH et al.
Nature, 2018
Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.
Xu TH et al.
Cell Discovery, 2016
27625790 (PubMed )
Supplement: celldisc201626-s1.pdf
Neuropathology and biochemistry of Aβ and its aggregates in Alzheimer's disease.
Thal DR et al.
Acta Neuropathologica, 2015
Early onset Alzheimer's disease and oxidative stress.
Meraz-Ríos MA et al.
Oxidative Medicine and Cellular Longevity, 2014
Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.
Weggen S et al.
Alzheimer's Research & Therapy, 2012
Novel T719P AbetaPP mutation unbalances the relative proportion of amyloid-beta peptides.
Ghidoni R et al.
Journal of Alzheimer's Disease : Jad, 2009
Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.
Kowalska A
Folia Neuropathologica, 2003
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