Associated Papers
The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.
Zoltowska KM et al.
Alzheimer's Research & Therapy, 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
Mutations in PSEN1 predispose inflammation in an astrocyte model of familial Alzheimer's disease through disrupted regulated intramembrane proteolysis.
Ziff OJ et al.
Molecular Neurodegeneration, 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
Chemical imaging delineates Aβ plaque polymorphism across the Alzheimer's disease spectrum.
Koutarapu S et al.
Nature Communications, 2025
Huntington's disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration.
Koriath CAM et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Altered metabolic function induced by Aβ-oligomers and PSEN1 mutations in iPSC-derived astrocytes.
Elsworthy RJ et al.
Journal of Neurochemistry, 2025
Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation.
Fuller PE et al.
Human Molecular Genetics, 2024
The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.
Arber C et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Selective suppression of oligodendrocyte-derived amyloid beta rescues neuronal dysfunction in Alzheimer's disease.
Rajani RM et al.
Plos Biology, 2024
Rodent Models of Alzheimer's Disease: Past Misconceptions and Future Prospects.
Collins HM et al.
International Journal of Molecular Sciences, 2024
Early molecular events of autosomal-dominant Alzheimer's disease in marmosets with PSEN1 mutations.
Homanics GE et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
In Silico Structural Analysis Exploring Conformational Folding of Protein Variants in Alzheimer's Disease.
Efraimidis E et al.
International Journal of Molecular Sciences, 2023
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.
Willumsen N et al.
Brain Communications, 2023
An Alternative View of Familial Alzheimer's Disease Genetics.
Lardelli M
Journal of Alzheimer's Disease : Jad, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 2022
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
A third-generation mouse model of Alzheimer's disease shows early and increased cored plaque pathology composed of wild-type human amyloid β peptide.
Sato K et al.
The Journal of Biological Chemistry, 2021
Amyloid-β precursor protein processing and oxidative stress are altered in human iPSC-derived neuron and astrocyte co-cultures carrying presenillin-1 gene mutations following spontaneous differentiation.
Elsworthy RJ et al.
Molecular and Cellular Neurosciences, 2021
Aβ43 aggregates exhibit enhanced prion-like seeding activity in mice.
Ruiz-Riquelme A et al.
Acta Neuropathologica Communications, 2021
Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions.
Szaruga M et al.
Cell, 2021
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Arber C et al.
Molecular Psychiatry, 2020
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
The R278I Mutation of PSEN1 in the Familial Alzheimer Disease.
Kim JH et al.
Dementia and Neurocognitive Disorders, 2020