Associated Papers
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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 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
Screening for Genetic Mutations Associated with Early-Onset Alzheimer's Disease in Han Chinese.
Liu C et al.
Current Alzheimer Research, 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
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 2020
Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.
Quan M et al.
Alzheimer's Research & Therapy, 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Familial L723P Mutation Can Shift the Distribution between the Alternative APP Transmembrane Domain Cleavage Cascades by Local Unfolding of the Ε-Cleavage Site Suggesting a Straightforward Mechanism of Alzheimer's Disease Pathogenesis.
Bocharov EV et al.
Acs Chemical Biology, 2019
The vexing complexity of the amyloidogenic pathway.
Castro MA et al.
Protein Science : a Publication of the Protein Society, 2019
The First Generation of iPSC Line from a Korean Alzheimer's Disease Patient Carrying APP-V715M Mutation Exhibits a Distinct Mitochondrial Dysfunction.
Li L et al.
Experimental Neurobiology, 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
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
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Computational Screening and Exploration of Disease-Associated Genes in Alzheimer's Disease.
Jamal S et al.
Journal of Cellular Biochemistry, 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: From Genetic Variants to the Distinct Pathological Mechanisms.
Sun Q et al.
Frontiers in Molecular Neuroscience, 2017
Cell-free expression of the APP transmembrane fragments with Alzheimer's disease mutations using algal amino acid mixture for structural NMR studies.
Bocharova OV et al.
Protein Expression and Purification, 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
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
A genetic screen of the mutations in the Korean patients with early-onset Alzheimer's disease.
An SS et al.
Clinical Interventions in Aging, 2016
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
Blepharospasm in familial AD secondary to an APP mutation (V715M).
Nan SJ et al.
Acta Neurologica Belgica, 2014
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
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 2014
Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease.
El Kadmiri N et al.
Journal of Molecular Neuroscience : Mn, 2014
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
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
Clinical genetics of Alzheimer's disease.
Zou Z et al.
Biomed Research International, 2014
Hereditary and sporadic beta-amyloidoses.
Di Fede G et al.
Frontiers in Bioscience (landmark Edition), 2013
Comparable dimerization found in wildtype and familial Alzheimer's disease amyloid precursor protein mutants.
So PP et al.
American Journal of Neurodegenerative Disease, 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
Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif.
Munter LM et al.
The Journal of Biological Chemistry, 2010
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.
Kumar-Singh S
International Journal of Molecular Sciences, 2009
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.
Park HK et al.
Journal of Korean Medical Science, 2008