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
Identification of presenilin mutations that have sufficient gamma-secretase proteolytic activity to mediate Notch signaling but disrupt organelle and neuronal health.
Ashkavand Z et al.
Neurobiology of Disease, 2025
A C. elegans model of familial Alzheimer's disease shows age-dependent synaptic degeneration independent of amyloid β-peptide.
Nagarajan V et al.
Biorxiv : the Preprint Server for Biology, 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
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
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
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
PS1 Affects the Pathology of Alzheimer's Disease by Regulating BACE1 Distribution in the ER and BACE1 Maturation in the Golgi Apparatus.
Li N et al.
International Journal of Molecular Sciences, 2022
IP3R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease.
Tiscione SA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2.
Mehra R et al.
The Journal of Physical Chemistry. B, 2020
Importance of γ-secretase in the regulation of liver X receptor and cellular lipid metabolism.
Gutierrez E et al.
Life Science Alliance, 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
Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity.
Tiscione SA et al.
The Journal of Cell Biology, 2019
Novel interaction between Alzheimer's disease-related protein presenilin 1 and glutamate transporter 1.
Zoltowska KM et al.
Scientific Reports, 2018
β-Amyloid Precursor Protein Intracellular Domain Controls Mitochondrial Function by Modulating Phosphatase and Tensin Homolog-Induced Kinase 1 Transcription in Cells and in Alzheimer Mice Models.
Goiran T et al.
Biological Psychiatry, 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
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
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
Veugelen S et al.
Neuron, 2016
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
Xia D et al.
Neuron, 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
Attenuated presenilin-1 endoproteolysis enhances store-operated calcium currents in neuronal cells.
Ryazantseva M et al.
Journal of Neurochemistry, 2016
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
Alzheimer's disease-causing proline substitutions lead to presenilin 1 aggregation and malfunction.
Ben-Gedalya T et al.
The Embo Journal, 2015
Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.
Fernandez MA et al.
The Journal of Biological Chemistry, 2014
Increased mtDNA mutations with aging promotes amyloid accumulation and brain atrophy in the APP/Ld transgenic mouse model of Alzheimer's disease.
Kukreja L et al.
Molecular Neurodegeneration, 2014
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
Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.
Newman M et al.
Human Molecular Genetics, 2014
Presenilin-1 regulates the expression of p62 to govern p62-dependent tau degradation.
Tung YT et al.
Molecular Neurobiology, 2014
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
Ahmadi S et al.
Neurobiology of Aging, 2014
Biological function of Presenilin and its role in AD pathogenesis.
Zhang S et al.
Translational Neurodegeneration, 2013
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
Heilig EA et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
Spike bursts increase amyloid-β 40/42 ratio by inducing a presenilin-1 conformational change.
Dolev I et al.
Nature Neuroscience, 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
Repression of transcription of presenilin-1 inhibits γ-secretase independent ER Ca²⁺ leak that is impaired by FAD mutations.
Das HK et al.
Journal of Neurochemistry, 2012
Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells.
Coen K et al.
The Journal of Cell Biology, 2012
δ-Catenin promotes E-cadherin processing and activates β-catenin-mediated signaling: implications on human prostate cancer progression.
Kim H et al.
Biochimica Et Biophysica Acta, 2012
Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels.
Shilling D et al.
The Journal of Biological Chemistry, 2012
Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes.
Cacquevel M et al.
Plos One, 2012
Presenilin1/gamma-secretase promotes the EphB2-induced phosphorylation of ephrinB2 by regulating phosphoprotein associated with glycosphingolipid-enriched microdomains/Csk binding protein.
Georgakopoulos A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011