Associated Papers
The Curious Case of a Heterozygous Loss-of-Function PSEN1 variant associated with Early-Onset Alzheimer's Disease.
Sanjuan Ruiz I et al.
Research Square, 2025
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.
Wang J et al.
The Biochemical Journal, 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
Understanding the Modulatory Role of E2012 on the γ-Secretase-Substrate Interaction.
Guzmán-Ocampo DC et al.
Journal of Chemical Information and Modeling, 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
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Wężyk M et al.
International Journal of Molecular Sciences, 2023
Permissive Conformations of a Transmembrane Helix Allow Intramembrane Proteolysis by γ-Secretase.
Ortner M et al.
Journal of Molecular Biology, 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
Elucidating the Protonation State of the γ-Secretase Catalytic Dyad.
Guzmán-Ocampo DC et al.
Acs Chemical Neuroscience, 2023
A thermodynamic investigation of amyloid precursor protein processing by human γ-secretase.
Lu X et al.
Communications Biology, 2022
Membrane dynamics of γ-secretase with the anterior pharynx-defective 1B subunit.
Dehury B et al.
Journal of Cellular Biochemistry, 2021
Mechanisms of γ-Secretase Activation and Substrate Processing.
Bhattarai A et al.
Acs Central Science, 2020
Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2.
Mehra R et al.
The Journal of Physical Chemistry. B, 2020
Substrate-Enzyme Interactions in Intramembrane Proteolysis: γ-Secretase as the Prototype.
Liu X et al.
Frontiers in Molecular Neuroscience, 2020
Presenilin 1 Regulates Membrane Homeostatic Pathways that are Dysregulated in Alzheimer's Disease.
Deaton CA et al.
Journal of Alzheimer's Disease : Jad, 2020
Two novel presenilin-1 mutations (I249L and P433S) in early onset Chinese Alzheimer's pedigrees and their functional characterization.
Shen L et al.
Biochemical and Biophysical Research Communications, 2019
Recognition of the amyloid precursor protein by human γ-secretase.
Zhou R et al.
Science (new York, N.y.), 2019
Structural basis of Notch recognition by human γ-secretase.
Yang G et al.
Nature, 2019
Novel interaction between Alzheimer's disease-related protein presenilin 1 and glutamate transporter 1.
Zoltowska KM et al.
Scientific Reports, 2018
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release.
Servián-Morilla E et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018
Influence of solubilization and AD-mutations on stability and structure of human presenilins.
Yang G et al.
Scientific Reports, 2017
Intracellular trafficking of TREM2 is regulated by presenilin 1.
Zhao Y et al.
Experimental & Molecular Medicine, 2017
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
Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Grigorenko AP et al.
Oncotarget, 2017
Familial Alzheimer's disease-associated presenilin 1 mutants promote γ-secretase cleavage of STIM1 to impair store-operated Ca2+ entry.
Tong BC et al.
Science Signaling, 2016
Loss of presenilin function is associated with a selective gain of APP function.
Deyts C et al.
Elife, 2016
Generation and deposition of Aβ43 by the virtually inactive presenilin-1 L435F mutant contradicts the presenilin loss-of-function hypothesis of Alzheimer's disease.
Kretner B et al.
Embo Molecular Medicine, 2016
γ-Secretase Activity Is Required for Regulated Intramembrane Proteolysis of Tumor Necrosis Factor (TNF) Receptor 1 and TNF-mediated Pro-apoptotic Signaling.
Chhibber-Goel J et al.
The Journal of Biological Chemistry, 2016
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
Reddy K et al.
Cell Reports, 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
A ubiquitin-binding CUE domain in presenilin-1 enables interaction with K63-linked polyubiquitin chains.
Duggan SP et al.
Febs Letters, 2015
Presenilin transmembrane domain 8 conserved AXXXAXXXG motifs are required for the activity of the γ-secretase complex.
Marinangeli C et al.
The Journal of Biological Chemistry, 2015
An ancestral non-proteolytic role for presenilin proteins in multicellular development of the social amoeba Dictyostelium discoideum.
Ludtmann MH et al.
Journal of Cell Science, 2014
Important functional role of residue x of the presenilin GxGD protease active site motif for APP substrate cleavage specificity and substrate selectivity of γ-secretase.
Kretner B et al.
Journal of Neurochemistry, 2013
Mechanism of intramembrane cleavage of alcadeins by γ-secretase.
Piao Y et al.
Plos One, 2013
Presenilin deficiency or lysosomal inhibition enhances Wnt signaling through relocalization of GSK3 to the late-endosomal compartment.
Dobrowolski R et al.
Cell Reports, 2012
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
Area-Gomez E et al.
The Embo Journal, 2012
Hyperphosphorylation of Tau induced by naturally secreted amyloid-β at nanomolar concentrations is modulated by insulin-dependent Akt-GSK3β signaling pathway.
Tokutake T et al.
The Journal of Biological Chemistry, 2012