Associated Papers
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
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
Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.
Katragadda P et al.
Journal of Movement Disorders, 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
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Influence of the familial Alzheimer's disease-associated T43I mutation on the transmembrane structure and γ-secretase processing of the C99 peptide.
Tang TC et al.
The Journal of Biological Chemistry, 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
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.
Sun Q et al.
Frontiers in Molecular Neuroscience, 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
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E 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
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
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
Clinical genetics of Alzheimer's disease.
Zou Z et al.
Biomed Research International, 2014
Early-onset Alzheimer's disease in two Iranian families: a genetic study.
Noroozian M et al.
Dementia and Geriatric Cognitive Disorders, 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
Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.
Buizza L et al.
Plos One, 2012
A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation.
Noebels J
Epilepsia, 2011
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.
Lindquist SG et al.
Clinical Genetics, 2009
Novel polymorphisms of the amyloid precursor protein (APP) gene in Chinese/Taiwanese patients with Alzheimer's disease.
Thajeb P et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2009
Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation.
Lindquist SG et al.
Journal of the Neurological Sciences, 2008
Mutations in APP have independent effects on Abeta and CTFgamma generation.
Hecimovic S et al.
Neurobiology of Disease, 2004
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
Zekanowski C et al.
Experimental Neurology, 2003
Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.
Kowalska A
Folia Neuropathologica, 2003
An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).
Pasalar P et al.
Neurology, 2002