Associated Papers
Targeting the PS1-ELK1 protein-protein interaction with a peptide-based inhibitor reduces Aβ production and alleviates memory decline in Alzheimer's disease.
Yi L et al.
International Journal of Biological Macromolecules, 2025
Structural and functional effects of disease mutations in the interface of human membrane protein complexes.
Ridha F et al.
International Journal of Biological Macromolecules, 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
APP lysine 612 lactylation ameliorates amyloid pathology and memory decline in Alzheimer's disease.
Tian Q et al.
The Journal of Clinical Investigation, 2025
PS1/gamma-secretase acts as rogue chaperone of glutamate transporter EAAT2/GLT-1 in Alzheimer's disease.
Perrin F et al.
Acta Neuropathologica Communications, 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 monomer scavenging by an anticalin protein prevents neuronal hyperactivity in mouse models of Alzheimer's Disease.
Zott B et al.
Nature Communications, 2024
Molecular mechanism of substrate recognition and cleavage by human γ-secretase.
Guo X et al.
Science (new York, N.y.), 2024
Apo and Aβ46-bound γ-secretase structures provide insights into amyloid-β processing by the APH-1B isoform.
Odorčić I et al.
Nature Communications, 2024
Familial Alzheimer mutations stabilize synaptotoxic γ-secretase-substrate complexes.
Devkota S et al.
Cell Reports, 2024
APP substrate ectodomain defines amyloid-β peptide length by restraining γ-secretase processivity and facilitating product release.
Koch M et al.
The Embo Journal, 2023
PS1/gamma-secretase acts as rogue chaperone of glutamate transporter EAAT2/GLT-1 in Alzheimer's disease.
Perrin F et al.
Research Square, 2023
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Cholinergic-like neurons and cerebral spheroids bearing the PSEN1 p.Ile416Thr variant mirror Alzheimer's disease neuropathology.
Gomez-Sequeda N et al.
Scientific 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
Presenilin 1 deficiency impairs Aβ42-to-Aβ40- and angiotensin-converting activities of ACE.
Gao Y et al.
Frontiers in Aging Neuroscience, 2023
Characterization of spastic paraplegia in a family with a novel PSEN1 mutation.
Ringman JM et al.
Brain Communications, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Neuronal hyperexcitability in Alzheimer's disease: what are the drivers behind this aberrant phenotype?
Targa Dias Anastacio H et al.
Translational Psychiatry, 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
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Contribution of Human Pluripotent Stem Cell-Based Models to Drug Discovery for Neurological Disorders.
Benchoua A et al.
Cells, 2021
Switched Aβ43 generation in familial Alzheimer's disease with presenilin 1 mutation.
Kakuda N et al.
Translational Psychiatry, 2021
Emerging hiPSC Models for Drug Discovery in Neurodegenerative Diseases.
Trudler D et al.
International Journal of Molecular Sciences, 2021
Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions.
Szaruga M et al.
Cell, 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
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Contribution of the Presenilins in the cell biology, structure and function of γ-secretase.
Escamilla-Ayala A et al.
Seminars in Cell & Developmental Biology, 2020
Structure-activity relationship of presenilin in γ-secretase-mediated intramembrane cleavage.
Cai T et al.
Seminars in Cell & Developmental Biology, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Cholinergic-like neurons carrying PSEN1 E280A mutation from familial Alzheimer's disease reveal intraneuronal sAPPβ fragments accumulation, hyperphosphorylation of TAU, oxidative stress, apoptosis and Ca2+ dysregulation: Therapeutic implications.
Soto-Mercado V et al.
Plos One, 2020
Recognition of the amyloid precursor protein by human γ-secretase.
Zhou R et al.
Science (new York, N.y.), 2019
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Wu YY et al.
Open Biology, 2019
Elevated cellular cholesterol in Familial Alzheimer's presenilin 1 mutation is associated with lipid raft localization of β-amyloid precursor protein.
Cho YY et al.
Plos One, 2019
Novel PSEN1 p.Gly417Ala mutation in a Korean patient with early-onset Alzheimer's disease with parkinsonism.
Giau VV et al.
Neurobiology of Aging, 2018
Both positional and chemical variables control in vitro proteolytic cleavage of a presenilin ortholog.
Naing SH et al.
The Journal of Biological Chemistry, 2018
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.
Zhou R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.
Szaruga M et al.
Cell, 2017
Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease.
Shea YF et al.
Neurobiology of Aging, 2017
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.
Sannerud R et al.
Cell, 2016
Suppressor Mutations for Presenilin 1 Familial Alzheimer Disease Mutants Modulate γ-Secretase Activities.
Futai E et al.
The Journal of Biological Chemistry, 2016
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016