Associated Papers
A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling.
Voesenek BJB et al.
Neurobiology of Disease, 2026
Amyloid precursor protein and C99 are subunits in human microglial Hv1 channels that enhance current and inflammatory mediator release.
Zhao R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 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
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
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
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 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
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Wu YY et al.
Open Biology, 2019
The genes associated with early-onset Alzheimer's disease.
Dai MH et al.
Oncotarget, 2018
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
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
Probing the secrets of Alzheimer's disease using human-induced pluripotent stem cell technology.
Goldstein LS et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2015
Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.
Rozpedek W et al.
Current Medicinal Chemistry, 2015
Novel APP K724M mutation causes Chinese early-onset familial Alzheimer's disease and increases amyloid-β42 to amyloid-β40 ratio.
Peng XL et al.
Neurobiology of Aging, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
APP processing in human pluripotent stem cell-derived neurons is resistant to NSAID-based γ-secretase modulation.
Mertens J et al.
Stem Cell Reports, 2013
Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.
Weggen S et al.
Alzheimer's Research & Therapy, 2012
Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.
Zhou L et al.
Embo Molecular Medicine, 2011
Molecular genetics of Alzheimer's disease: an update.
Brouwers N et al.
Annals of Medicine, 2008
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
Klunk WE et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.
Kowalska A
Folia Neuropathologica, 2003