Research graph
References from Presenilin 1 Mutations Converge on Aβ42/Aβ40 Elevation via Distinct Mechanisms. Local targets link to admitted publications; unresolved targets remain external evidence.
Amyloid β‐Based Therapy for Alzheimer's Disease: Challenges, Successes and Future
10.1038/s41392-023-01484-7 · 2023 · External reference
Islet Amyloid Polypeptide: Another Key Molecule in Alzheimer's Pathogenesis?
10.1016/j.pneurobio.2017.03.001 · 2017 · External reference
Cleavage of Amyloid Beta Peptide During Constitutive Processing of Its Precursor
10.1126/science.2111583 · 1990 · External reference
Evidence That Tumor Necrosis Factor Alpha Converting Enzyme Is Involved in Regulated Alpha‐secretase Cleavage of the Alzheimer Amyloid Protein Precursor
10.1074/jbc.273.43.27765 · 1998 · External reference
Contactin‐associated Protein‐Like 2 (CNTNAP2) Mutations Impair the Essential Alpha‐Secretase Cleavages, Leading to Autism‐Like Phenotypes
10.1038/s41392-024-01768-6 · 2024 · External reference
Control of APP Processing and Abeta Generation Level by BACE1 Enzymatic Activity and Transcription
10.1096/fj.05-4986com · 2006 · External reference
BACE1 Cleavage Site Selection Critical for Amyloidogenesis and Alzheimer's Pathogenesis
10.1523/jneurosci.0340-17.2017 · 2017 · External reference
Amyloid‐β Protein (Aβ) Glu11 Is the Major β‐secretase Site of β‐Site Amyloid‐β Precursor Protein‐Cleaving Enzyme 1(BACE1), and Shifting the Cleavage Site to Aβ Asp1 Contributes to Alzheimer Pathogenesis
10.1111/ejn.12235 · 2013 · External reference
Presenilins Are Required for Gamma‐Secretase Cleavage of Beta‐APP and Transmembrane Cleavage of Notch‐1
10.1038/35017108 · 2000 · External reference
Lessons From a Failed γ‐Secretase Alzheimer Trial
10.1016/j.cell.2014.10.016 · 2014 · External reference
Proteolytic Release and Nuclear Translocation of Notch‐1 Are Induced by Presenilin‐1 and Impaired by Pathogenic Presenilin‐1 Mutations
10.1073/pnas.96.12.6959 · 1999 · External reference
A Phase 3 Trial of semagacestat for Treatment of Alzheimer's Disease
10.1056/nejmoa1210951 · 2013 · External reference
A Presenilin‐1 Mutation Causes Alzheimer Disease Without Affecting Notch Signaling
10.1038/s41380-018-0101-x · 2020 · External reference
Biological Function of Presenilin and Its Role in AD Pathogenesis
10.1186/2047-9158-2-15 · 2013 · External reference
PS1 N‐ and C‐terminal Fragments Form a Complex That Functions in APP Processing and Notch Signaling
10.1073/pnas.211321898 · 2001 · External reference
Two Transmembrane Aspartates in Presenilin‐1 Required for Presenilin Endoproteolysis and Gamma‐Secretase Activity
10.1038/19077 · 1999 · External reference
Endoproteolysis of Presenilin 1 and Accumulation of Processed Derivatives in Vivo
10.1016/s0896-6273(00)80291-3 · 1996 · External reference
The Biological and Pathological Function of the Presenilin‐1 Deltaexon 9 Mutation Is Independent of Its Defect to Undergo Proteolytic Processing
10.1074/jbc.274.12.7615 · 1999 · External reference
Presenilin‐1 Differentially Facilitates Endoproteolysis of the Beta‐Amyloid Precursor Protein and Notch
10.1038/35008626 · 2000 · External reference
Presenilin‐1 Regulates the Neuronal Threshold to Excitotoxicity both Physiologically and Pathologically
10.1073/pnas.97.23.12822 · 2000 · External reference
Neurons Overexpressing Mutant Presenilin‐1 Are More Sensitive to Apoptosis Induced by Endoplasmic Reticulum‐Golgi Stress
10.1002/jnr.10312 · 2002 · External reference
Alzheimer's Disease‐Causing Presenilin‐1 Mutations Have Deleterious Effects on Mitochondrial Function
10.7150/thno.59776 · 2021 · External reference
Susceptibility to Cellular Stress in PS1 Mutant N2a Cells Is Associated With Mitochondrial Defects and Altered Calcium Homeostasis
10.1038/s41598-020-63254-7 · 2020 · External reference
Notch Signaling: Cell Fate Control and Signal Integration in Development
10.1126/science.284.5415.770 · 1999 · External reference
Notch Promotes Neural Lineage Entry by Pluripotent Embryonic Stem Cells
10.1371/journal.pbio.0040121 · 2006 · External reference
Notch/Gamma‐Secretase Inhibition Turns Proliferative Cells in Intestinal Crypts and Adenomas Into Goblet Cells
10.1038/nature03659 · 2005 · External reference
A Novel Presenilin 1 Mutation (Ser169del) in a Chinese Family With Early‐Onset Alzheimer's Disease
10.1016/j.neulet.2009.10.055 · 2010 · External reference
Structural Basis of Notch Recognition by Human γ‐Secretase
10.1038/s41586-018-0813-8 · 2019 · External reference
Recognition of the Amyloid Precursor Protein by Human γ‐Secretase
10.1126/science.aaw0930 · 2019 · External reference
The Structure of the Presenilin 1 (S182) Gene and Identification of Six Novel Mutations in Early Onset AD Families
10.1038/ng1095-219 · 1995 · External reference
Mutation Analysis of Disease Causing Genes in Patients With Early Onset or Familial Forms of Alzheimer's Disease and Frontotemporal Dementia
2022 · External reference
Systematic Validation of Variants of Unknown Significance in APP, PSEN1 and PSEN2
10.1016/j.nbd.2020.104817 · 2020 · External reference
Effect of Presenilin Mutations on APP Cleavage; Insights Into the Pathogenesis of FAD
2016 · External reference
Age‐Related Vascular Pathology in Transgenic Mice Expressing Presenilin 1‐Associated Familial Alzheimer's Disease Mutations
10.2353/ajpath.2010.090482 · 2010 · External reference
Presenilin‐1 Mutation Impairs Cholinergic Modulation of Synaptic Plasticity and Suppresses NMDA Currents in Hippocampus Slices
10.1016/j.neurobiolaging.2007.10.009 · 2009 · External reference
Requirement for Small Side Chain Residues Within the GxGD‐Motif of Presenilin for γ‐Secretase Substrate Cleavage
10.1111/j.1471-4159.2009.06510.x · 2010 · External reference
Molecular Genetic Analysis of Familial Early‐Onset Alzheimer's Disease Linked to Chromosome 14q24
10.1093/hmg/4.12.2363 · 1995 · External reference
The Mechanism of γ‐Secretase Dysfunction in Familial Alzheimer Disease
10.1038/emboj.2012.79 · 2012 · External reference
10.1073/pnas.1618657114
10.1073/pnas.1618657114 · External reference
Missense Mutations in the Chromosome 14 Familial Alzheimer's disease Presenilin 1 Gene
10.1002/(sici)1098-1004(1998)11:3<216::aid-humu6>3.0.co;2-f · 1998 · External reference
Trans‐Dominant Negative Effects of Pathogenic PSEN1 Mutations on γ‐Secretase Activity and Aβ Production
10.1523/jneurosci.0954-13.2013 · 2013 · External reference
Early‐Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum
10.1086/302553 · 1999 · External reference
Clinical Phenotype and Genetic Associations in Autosomal Dominant Familial Alzheimer's Disease: A Case Series
10.1016/s1474-4422(16)30193-4 · 2016 · External reference
Aβ Profiles Generated by Alzheimer's Disease Causing PSEN1 Variants Determine the Pathogenicity of the Mutation and Predict Age at Disease Onset
10.1038/s41380-022-01518-6 · 2022 · External reference
Degradation of BACE by the Ubiquitin‐Proteasome Pathway
10.1096/fj.04-1994fje · 2004 · External reference
Distinct Transcriptional Regulation and Function of the human BACE2 and BACE1 Genes
10.1096/fj.04-3426com · 2005 · External reference
Amyloid Precursor Protein Promotes Endoplasmic Reticulum Stress‐induced Cell Death via C/EBP Homologous Protein‐Mediated Pathway
10.1111/j.1471-4159.2009.06067.x · 2009 · External reference
Accumulation of Amyloid Precursor Protein C‐Terminal Fragments Triggers Mitochondrial Structure, Function, and Mitophagy Defects in Alzheimer's Disease Models and Human Brains
10.1007/s00401-020-02234-7 · 2021 · External reference
The Ratio of Monomeric to Aggregated Forms of Abeta40 and Abeta42 Is an Important Determinant of Amyloid‐beta Aggregation, Fibrillogenesis, and Toxicity
10.1074/jbc.m803159200 · 2008 · External reference
Presenilin‐1 Knockin Mice Reveal Loss‐of‐Function Mechanism for Familial Alzheimer's Disease
10.1016/j.neuron.2015.02.010 · 2015 · External reference
PS1 Affects the Pathology of Alzheimer's Disease by Regulating BACE1 Distribution in the ER and BACE1 Maturation in the Golgi Apparatus
10.3390/ijms232416151 · 2022 · External reference
Mutant Presenilin 1 Increases the Expression and Activity of BACE1
10.1074/jbc.m805685200 · 2009 · External reference
Familial Alzheimer's Disease Mutations in Presenilin 1 Do Not Alter Levels of the Secreted Amyloid‐beta Protein Precursor Generated by Beta‐Secretase Cleavage
10.2174/156720510790274428 · 2010 · External reference
Distinct Patterns of APP Processing in the CNS in Autosomal‐Dominant and Sporadic Alzheimer Disease
10.1007/s00401-012-1062-9 · 2013 · External reference
BACE1 Interacts with Nicastrin
10.1016/s0006-291x(02)00351-0 · 2002 · External reference
Presenilin Proteins Undergo Heterogeneous Endoproteolysis Between Thr291 and Ala299 and Occur as Stable N‐ and C‐Terminal Fragments in Normal and Alzheimer Brain Tissue
10.1006/nbdi.1997.0129 · 1997 · External reference
Contribution of the γ‐Secretase Subunits to the Formation of Catalytic Pore of Presenilin 1 Protein
10.1074/jbc.m111.336347 · 2012 · External reference
The PSEN1 E280G Mutation Leads to Increased Amyloid‐β43 Production in Induced Pluripotent Stem Cell Neurons and Deposition in Brain Tissue
10.1093/braincomms/fcac321 · 2023 · External reference
PEN‐2 and APH‐1 Coordinately Regulate Proteolytic Processing of Presenilin 1
10.1074/jbc.c200648200 · 2003 · External reference
APH‐1 Interacts With Mature and Immature Forms of Presenilins and Nicastrin and May Play a Role in Maturation of Presenilin.Nicastrin Complexes
10.1074/jbc.m209499200 · 2003 · External reference
A Sequence Within the First Transmembrane Domain of PEN‐2 Is Critical for PEN‐2‐Mediated Endoproteolysis of Presenilin 1
10.1074/jbc.m412404200 · 2005 · External reference
Pen‐2 Is Dispensable for Endoproteolysis of Presenilin 1, and Nicastrin‐Aph Subcomplex Is Important for both γ‐Secretase Assembly and Substrate Recruitment
10.1111/jnc.12016 · 2012 · External reference
Activation and Intrinsic Gamma‐Secretase Activity of Presenilin 1
10.1073/pnas.1013246107 · 2010 · External reference
The Dynamic Conformational Landscape of Gamma‐Secretase
2015 · External reference
Endocytosis‐Mediated Downregulation of LIN‐12/Notch Upon Ras Activation in Caenorhabditis elegans
10.1038/nature01234 · 2002 · External reference
A Presenilin‐1‐Dependent Gamma‐Secretase‐Like Protease Mediates Release of Notch Intracellular Domain
10.1038/19083 · 1999 · External reference
Dissecting Drug‐Induced Cytotoxicity and Metabolic Dysfunction in Conditionally Immortalized Human Proximal Tubule Cells
10.3389/ftox.2022.842396 · 2022 · External reference
Discriminative Cytotoxicity Assessment Based on Various Cellular Damages
10.1016/j.toxlet.2008.10.006 · 2009 · External reference
Increased BACE1 Maturation Contributes to the Pathogenesis of Alzheimer's Disease in Down Syndrome
10.1096/fj.05-5628com · 2006 · External reference
USP25 inhibition Ameliorates Alzheimer's Pathology Through the Regulation of APP Processing and Aβ Generation
10.1172/jci152170 · 2022 · External reference
Degradation of Nicastrin Involves both Proteasome and Lysosome
10.1111/j.1471-4159.2007.04449.x · 2007 · External reference
