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
Transient cholesterol interactions with the amyloid precursor protein involved in Alzheimer's disease pathogenesis.
Zlobina VV et al.
Biophysical Reviews, 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
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.
Quan M et al.
Phenomics (cham, 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
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
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J 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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid β fibril formation.
Pagnon de la Vega M et al.
Science Translational Medicine, 2021
Altered Hinge Conformations in APP Transmembrane Helix Mutants May Affect Enzyme-Substrate Interactions of γ-Secretase.
Silber M et al.
Acs Chemical Neuroscience, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 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
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
UniProt genomic mapping for deciphering functional effects of missense variants.
McGarvey PB et al.
Human Mutation, 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
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
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
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
Neuropathology and biochemistry of Aβ and its aggregates in Alzheimer's disease.
Thal DR et al.
Acta Neuropathologica, 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
Molecular mechanisms of Alzheimer disease protection by the A673T allele of amyloid precursor protein.
Maloney JA et al.
The Journal of Biological Chemistry, 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
Characterization of intermediate steps in amyloid beta (Aβ) production under near-native conditions.
Olsson F et al.
The Journal of Biological Chemistry, 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
Comparable dimerization found in wildtype and familial Alzheimer's disease amyloid precursor protein mutants.
So PP et al.
American Journal of Neurodegenerative Disease, 2013
Alzheimer's disease mutations in APP but not γ-secretase modulators affect epsilon-cleavage-dependent AICD production.
Dimitrov M et al.
Nature Communications, 2013
Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort.
Dobricic V et al.
Neurobiology of Aging, 2012
Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.
Weggen S et al.
Alzheimer's Research & Therapy, 2012