Associated Papers
A C. elegans model of familial Alzheimer's disease shows age-dependent synaptic degeneration independent of amyloid β-peptide.
Nagarajan V et al.
Neurobiology of Disease, 2026
APOE4 impacts cortical neurodevelopment and alters network formation in human brain organoids.
Meyer-Acosta KK et al.
Stem 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
Cross-Interactions of Aβ Peptides Implicated in Alzheimer's Disease Shape Amyloid Oligomer Structures and Aggregation.
Habeck T et al.
Acs Chemical Neuroscience, 2024
Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation.
Fuller PE et al.
Human Molecular Genetics, 2024
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
APOE4 impacts cortical neurodevelopment and alters network formation in human brain organoids.
Meyer-Acosta KK et al.
Biorxiv : the Preprint Server for Biology, 2024
AlzDiscovery: A computational tool to identify Alzheimer's disease-causing missense mutations using protein structure information.
Pan Q et al.
Protein Science : a Publication of the Protein Society, 2024
β-Amyloid species production and tau phosphorylation in iPSC-neurons with reference to neuropathologically characterized matched donor brains.
Oakley DH et al.
Journal of Neuropathology and Experimental Neurology, 2024
Cortical neurodegeneration caused by Psen1 mutations is independent of Aβ.
Yan K et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
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
Alzheimer's disease linked Aβ42 exerts product feedback inhibition on γ-secretase impairing downstream cell signaling.
Zoltowska KM et al.
Biorxiv : the Preprint Server for Biology, 2024
Mesenchymal Stem Cells from Familial Alzheimer's Patients Express MicroRNA Differently.
Rochín-Hernández LJ et al.
International Journal of Molecular Sciences, 2024
Genetic correction of induced pluripotent stem cells from a DFNA36 patient results in morphologic and functional recovery of derived hair cell-like cells.
Luo Y et al.
Stem Cell Research & Therapy, 2024
Generation and Characterization of a Novel Knockin Mouse Model Expressing PSEN1 D385A: Implications for Investigating Herbal Drug Effects in γ-Secretase Activity.
Deng C et al.
Journal of Alzheimer's Disease : Jad, 2024
Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in Psen mutant mice.
Montenegro P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Developing a Gene Therapy for the Treatment of Autosomal Dominant Alzheimer's Disease.
Moore B et al.
Human Gene Therapy, 2023
Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1.
Kurth V et al.
The Journal of Biological Chemistry, 2023
Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.
Hurley EM et al.
Stem Cell Reports, 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
Elucidating the Protonation State of the γ-Secretase Catalytic Dyad.
Guzmán-Ocampo DC et al.
Acs Chemical Neuroscience, 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
Selective ferroptosis vulnerability due to familial Alzheimer's disease presenilin mutations.
Greenough MA et al.
Cell Death and Differentiation, 2022
Towards a Mechanistic Model of Tau-Mediated Pathology in Tauopathies: What Can We Learn from Cell-Based In Vitro Assays?
Sala-Jarque J 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
Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.
Chong CM et al.
Cell & Bioscience, 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
Loss of presenilin function enhances tau phosphorylation and aggregation in mice.
Soto-Faguás CM et al.
Acta Neuropathologica Communications, 2021
Continuous Monitoring of Tau-Induced Neurotoxicity in Patient-Derived iPSC-Neurons.
Oakley DH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
PRESENILIN 1 Mutations Causing Early-Onset Familial Alzheimer's Disease or Familial Acne Inversa Differ in Their Effects on Genes Facilitating Energy Metabolism and Signal Transduction.
Barthelson K et al.
Journal of Alzheimer's Disease : Jad, 2021
A computer-simulated mechanism of familial Alzheimer's disease: Mutations enhance thermal dynamics and favor looser substrate-binding to γ-secretase.
Dehury B et al.
Journal of Structural Biology, 2020
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 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
Unraveling the complexity of γ-secretase.
Wolfe MS
Seminars in Cell & Developmental Biology, 2020
The Alzheimer Disease-Causing Presenilin-1 L435F Mutation Causes Increased Production of Soluble Aβ43 Species in Patient-Derived iPSC-Neurons, Closely Mimicking Matched Patient Brain Tissue.
Oakley DH et al.
Journal of Neuropathology and Experimental Neurology, 2020
Knock-in rats with homozygous PSEN1L435F Alzheimer mutation are viable and show selective γ-secretase activity loss causing low Aβ40/42 and high Aβ43.
Tambini MD et al.
The Journal of Biological Chemistry, 2020