Associated Papers
Phenotypic variability in early-onset dementia segregating with a novel APP (p.I718M) variant.
Johansson C et al.
Alzheimer's Research & Therapy, 2025
Comparison of the ApoE allelic variants in the formation of intracerebral Aβ deposits.
Xu G et al.
Neurobiology of Disease, 2025
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 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
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
Longitudinal characterization reveals behavioral impairments in aged APP knock in mouse models.
Blackmer-Raynolds L et al.
Scientific Reports, 2025
APP substrate ectodomain defines amyloid-β peptide length by restraining γ-secretase processivity and facilitating product release.
Koch M et al.
The Embo Journal, 2023
Interaction of Proteins Involved in Neuronal Proteinopathies.
Kulichikhin KY et al.
Life (basel, Switzerland), 2023
Differential and substrate-specific inhibition of γ-secretase by the C-terminal region of ApoE2, ApoE3, and ApoE4.
Hou X et al.
Neuron, 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
Structural Determinant of β-Amyloid Formation: From Transmembrane Protein Dimerization to β-Amyloid Aggregates.
Papadopoulos N et al.
Biomedicines, 2022
Novel App knock-in mouse model shows key features of amyloid pathology and reveals profound metabolic dysregulation of microglia.
Xia D et al.
Molecular Neurodegeneration, 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
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.
Chávez-Gutiérrez L et al.
Seminars in Cell & Developmental Biology, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 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
UniProt genomic mapping for deciphering functional effects of missense variants.
McGarvey PB et al.
Human Mutation, 2019
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Somatic APP gene recombination in Alzheimer's disease and normal neurons.
Lee MH et al.
Nature, 2018
The genes associated with early-onset Alzheimer's disease.
Dai MH et al.
Oncotarget, 2018
Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome.
Zis P et al.
Free Radical Biology & Medicine, 2018
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.
Szaruga M et al.
Cell, 2017
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
Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants.
N'Songo A et al.
Journal of Alzheimer's Disease : Jad, 2017
Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.
Sun Q et al.
Frontiers in Molecular Neuroscience, 2017
One protein, multiple pathologies: multifaceted involvement of amyloid β in neurodegenerative disorders of the brain and retina.
Gupta V et al.
Cellular and Molecular Life Sciences : Cmls, 2016
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.
Shea YF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2016
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
Role of Apolipoprotein E in β-Amyloidogenesis: ISOFORM-SPECIFIC EFFECTS ON PROTOFIBRIL TO FIBRIL CONVERSION OF Aβ IN VITRO AND BRAIN Aβ DEPOSITION IN VIVO.
Hori Y et al.
The Journal of Biological Chemistry, 2015
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Conidi ME et al.
Neurology, 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
Abundance of Aβ₅-x like immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer's disease.
Guzmán EA et al.
Molecular Neurodegeneration, 2014
Characterization of intermediate steps in amyloid beta (Aβ) production under near-native conditions.
Olsson F et al.
The Journal of Biological Chemistry, 2014
Autosomal-dominant Alzheimer's disease mutations at the same codon of amyloid precursor protein differentially alter Aβ production.
Suárez-Calvet M et al.
Journal of Neurochemistry, 2014
Early onset Alzheimer's disease and oxidative stress.
Meraz-Ríos MA et al.
Oxidative Medicine and Cellular Longevity, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Kamp JA et al.
Reviews in the Neurosciences, 2014