Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Journal of Neurochemistry

• Publication date

  2016-02-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1111/jnc.13535PMID 26756738
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• β‐Amyloid pathogenesis: Chemical properties versus cellular levels

  2016cited by this paper
• Genotype-Property Patient-Phenotype Relations Suggest that Proteome Exhaustion Can Cause Amyotrophic Lateral Sclerosis

  2015cited by this paper
• An atomic structure of human γ-secretase

  2015cited by this paper
• Presenilin-like GxGD Membrane Proteases Have Dual Roles as Proteolytic Enzymes and Ion Channels*

  2015cited by this paper
• Structural basis of human γ-secretase assembly

  2015cited by this paper
• Is Alzheimer's disease a systemic disease?

  2014cited by this paper
• Protter: interactive protein feature visualization and integration with experimental proteomic data

  2014cited by this paper
• Alzheimer Presenilin-1 Mutations Dramatically Reduce Trimming of Long Amyloid β-Peptides (Aβ) by γ-Secretase to Increase 42-to-40-Residue Aβ*

  2014cited by this paper
• Why Alzheimer trials fail: removing soluble oligomeric beta amyloid is essential, inconsistent, and difficult.

  2014cited by this paper
• SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

  2014cited by this paper
• A Critique of the Drug Discovery and Phase 3 Clinical Programs Targeting the Amyloid Hypothesis for Alzheimer Disease

  2014cited by this paper
• Three-dimensional structure of human γ-secretase

  2014cited by this paper
• Bioenergetic Dysfunction and Inflammation in Alzheimer’s Disease: A Possible Connection

  2014cited by this paper
• Symptom onset in autosomal dominant Alzheimer disease

  2014cited by this paper
• A phase 3 trial of semagacestat for treatment of Alzheimer's disease.

  2013cited by this paper
• The case for soluble Aβ oligomers as a drug target in Alzheimer's disease.

  2013cited by this paper
• The presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells.

  2013cited by this paper
• Toward the structure of presenilin/γ-secretase and presenilin homologs.

  2013cited by this paper
• Alzheimer's Disease-Linked Mutations in Presenilin-1 Result in a Drastic Loss of Activity in Purified γ-Secretase Complexes

  2012cited by this paper
• Is the amyloid hypothesis of Alzheimer's disease therapeutically relevant?

  2012cited by this paper
• Generation of Alzheimer Disease-associated Amyloid β42/43 Peptide by γ-Secretase Can Be Inhibited Directly by Modulation of Membrane Thickness*

  2012cited by this paper
• Misfolded proteins in Alzheimer's disease and type II diabetes.

  2012cited by this paper
• Trafficking and proteolytic processing of APP.

  2012cited by this paper
• The Metal Theory of Alzheimer's Disease

  2012cited by this paper
• Bioinorganic chemistry of Alzheimer's disease.

  2012cited by this paper
• The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

  2012cited by this paper
• Processive proteolysis by γ-secretase and the mechanism of Alzheimer’s disease

  2012cited by this paper
• New therapeutic targets in Alzheimer's disease: brain deregulation of calcium and zinc

  2011cited by this paper
• [Amyloid hypothesis].

  2011cited by this paper
• Alzheimer's disease genetics: current knowledge and future challenges

  2011cited by this paper
• Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.

  2011cited by this paper
• The amyloid cascade hypothesis for Alzheimer's disease: an appraisal for the development of therapeutics

  2011cited by this paper
• Calcium Signaling and Amyloid Toxicity in Alzheimer Disease*

  2010cited by this paper
• Three-Amino Acid Spacing of Presenilin Endoproteolysis Suggests a General Stepwise Cleavage of γ-Secretase-Mediated Intramembrane Proteolysis

  2010cited by this paper
• Metals, oxidative stress and neurodegenerative disorders

  2010cited by this paper
• The Role of Aβ-Induced Calcium Dysregulation in the Pathogenesis of Alzheimer's Disease

  2009cited by this paper
• The chemistry of Alzheimer's disease.

  2009cited by this paper
• Role of mitochondrial-mediated signaling pathways in Alzheimer disease and hypoxia

  2009cited by this paper
• The Amyloid Hypothesis of Alzheimer ’ s Disease : Progress and Problems on the Road to Therapeutics

  2009cited by this paper
• γ-Secretase: Successive Tripeptide and Tetrapeptide Release from the Transmembrane Domain of β-Carboxyl Terminal Fragment

  2009cited by this paper
• The presenilin hypothesis of Alzheimer's disease: Evidence for a loss-of-function pathogenic mechanism

  2007cited by this paper
• Loss‐of‐function presenilin mutations in Alzheimer disease

  2007cited by this paper
• Prediction of protein stability upon point mutations.

  2007cited by this paper
• Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease.

  2007cited by this paper
• The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

  2006cited by this paper
• Protein misfolding and human disease.

  2006cited by this paper
• Three-dimensional structure of the gamma-secretase complex.

  2006cited by this paper
• Mean age‐of‐onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40

  2006cited by this paper
• Protein misfolding, functional amyloid, and human disease.

  2006cited by this paper
• A Century of Alzheimer's Disease

  2006cited by this paper
• Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

  2005cited by this paper
• I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure

  2005cited by this paper
• Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.

  2005cited by this paper
• Loss of protein structure stability as a major causative factor in monogenic disease.

  2005cited by this paper
• Longer Forms of Amyloid β Protein: Implications for the Mechanism of Intramembrane Cleavage by γ-Secretase

  2005cited by this paper
• Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration.

  2004cited by this paper
• γ-Secretase is a membrane protein complex comprised of presenilin, nicastrin, aph-1, and pen-2

  2003cited by this paper
• Molecular basis of inherited diseases: a structural perspective.

  2003cited by this paper
• The Amyloid Hypothesis of Alzheimer's Disease: Progress and Problems on the Road to Therapeutics

  2002cited by this paper
• Presenilin mutations line up along transmembrane α-helices

  2001cited by this paper
• Presenilin mutations line up along transmembrane alpha-helices.

  2001cited by this paper
• Evidence That Aβ42 Plasma Levels in Presenilin-1 Mutation Carriers Do not Allow for Prediction of Their Clinical Phenotype

  1999cited by this paper
• Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

  1999influential reference
• Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease.

  1999cited by this paper
• Protein misfolding and degradation in genetic diseases

  1999cited by this paper
• Enhancement of amyloid β 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease

  1999cited by this paper
• Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

  1998cited by this paper
• Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

  1998cited by this paper
• Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo.

  1996cited by this paper
• Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1

  1996cited by this paper
• Familial Alzheimer's Disease–Linked Presenilin 1 Variants Elevate Aβ1–42/1–40 Ratio In Vitro and In Vivo

  1996cited by this paper
• The E280A presenilin 1 Alzheimer mutation produces increased Aβ42 deposition and severe cerebellar pathology

  1996cited by this paper
• Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

  1995cited by this paper
• Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

  1995cited by this paper
• Candidate gene for the chromosome 1 familial Alzheimer's disease locus

  1995cited by this paper
• Alzheimer disease amyloid beta protein forms calcium channels in bilayer membranes: blockade by tromethamine and aluminum.

  1993cited by this paper
• Comparative protein modelling by satisfaction of spatial restraints.

  1993cited by this paper
• Cellular processing of β-amyloid precursor protein and the genesis of amyloid β-peptide

  1993cited by this paper
• Cellular processing of beta-amyloid precursor protein and the genesis of amyloid beta-peptide.

  1993cited by this paper
• Familial Alzheimer's disease.

  1992cited by this paper
• Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

  1991influential reference
• Hydrophilicity of polar amino acid side-chains is markedly reduced by flanking peptide bonds.

  1988cited by this paper
• Hydrophobicity of amino acid residues in globular proteins.

  1985cited by this paper
• A simple method for displaying the hydropathic character of a protein.

  1982cited by this paper
• Amino Acid Difference Formula to Help Explain Protein Evolution

  1974cited by this paper

• The role of machine learning in discovering biomarkers and predicting treatment strategies for neurodegenerative diseases: A narrative review

  2025cites this paper
• AlzDiscovery: A computational tool to identify Alzheimer's disease‐causing missense mutations using protein structure information

  2024influential citation
• The amyloid cascade hypothesis: an updated critical review.

  2023cites this paper
• Effects of presenilin-1 familial Alzheimer’s disease mutations on γ-secretase activation for cleavage of amyloid precursor protein

  2023cites this paper
• The Anti-Amyloid Monoclonal Antibody Lecanemab: 16 Cautionary Notes

  2023cites this paper
• The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue

  2022cites this paper
• Active site geometry stabilization of a presenilin homolog by the lipid bilayer promotes intramembrane proteolysis

  2022cites this paper
• Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort

  2022cites this paper
• The Bright and Dark Sides of Reactive Oxygen Species Generated by Copper–Peptide Complexes

  2022cites this paper
• Understanding familial Alzheimer's disease: The fit‐stay‐trim mechanism of γ‐secretase

  2021influential citation
• A mechanistic survey of Alzheimer's disease.

  2021cites this paper
• Combined Scutellarin and C18H17NO6 Imperils the Survival of Glioma: Partly Associated With the Repression of PSEN1/PI3K-AKT Signaling Axis

  2021cites this paper
• The impact of the histidyl residue position on the formation and stability of Cu(ii) complexes and their ability of ROS generation

  2021cites this paper
• Membrane dynamics of γ‐secretase with the anterior pharynx‐defective 1B subunit

  2020cites this paper
• Cryo-temperature effects on membrane protein structure and dynamics.

  2020cites this paper
• Identification of Structural Calcium Binding Sites in Membrane-Bound Presenilin 1 and 2.

  2020cites this paper
• Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.

  2020cites this paper
• Alzheimer's Disease: The Role of Mutations in Protein Folding.

  2020cites this paper
• A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

  2020cites this paper
• Insights into amyotrophic lateral sclerosis linked Pro525Arg mutation in the fused in sarcoma protein through in silico analysis and molecular dynamics simulation

  2020cites this paper
• A computer-simulated mechanism of familial Alzheimer's disease: Mutations enhance thermal dynamics and favor looser substrate-binding to γ-secretase.

  2020cites this paper
• Side-by-side comparison of Notch- and C83 binding to γ-secretase in a complete membrane model at physiological temperature

  2020cites this paper
• Computational prediction and molecular mechanism of γ-secretase modulators.

  2020cites this paper
• Computational analysis of Alzheimer-causing mutations in amyloid precursor protein and presenilin 1.

  2019cites this paper
• Molecular dynamics of C99-bound γ-secretase reveal two binding modes with distinct compactness, stability, and active-site retention: implications for Aβ production.

  2019cites this paper
• The vexing complexity of the amyloidogenic pathway

  2019cites this paper
• Insights into the Potential Role of Mercury in Alzheimer’s Disease

  2019cites this paper
• A42/A40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease

  2019influential citation
• Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations

  2019cites this paper
• Extracellular Vesicle as a Source of Alzheimer’s Biomarkers: Opportunities and Challenges

  2019cites this paper
• Computing the Pathogenicity of Wilson's Disease ATP7B Mutations: Implications for Disease Prevalence

  2019cites this paper
• Computing the Pathogenicity of Alzheimer's Disease Presenilin 1 Mutations

  2019cites this paper
• Probable novel PSEN1 Gln222Leu mutation in a Chinese family with early-onset Alzheimer's disease.

  2019cites this paper
• Benchmarking Computational Methods for Estimating the Pathogenicity of Wilson’s Disease Mutations

  2019cites this paper
• Structure and dynamics of γ-secretase with presenilin 2 compared to presenilin 1

  2019cites this paper
• Toward Refined Theoretical Models for the Description of Lipophilicity in Biomolecules

  2019cites this paper
• Expression, purification, and preliminary characterization of human presenilin-2

  2018cites this paper
• Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer’s Disease

  2018influential citation
• Dysregulation of Intracellular Calcium Signaling in Alzheimer's Disease

  2018cites this paper
• Simulating the γ-secretase enzyme: Recent advances and future directions.

  2018cites this paper
• Autophagy and Alzheimer’s Disease: From Molecular Mechanisms to Therapeutic Implications

  2018cites this paper
• The genetic landscape of Alzheimer disease.

  2018cites this paper
• Molecular Recipe for γ-Secretase Modulation from Computational Analysis of 60 Active Compounds

  2018cites this paper
• Influence of membrane lipid composition on the structure and activity of γ-secretase.

  2018cites this paper
• Membrane Dynamics of γ-Secretase Provides a Molecular Basis for β-Amyloid Binding and Processing.

  2017cites this paper
• Influence of solubilization and AD-mutations on stability and structure of human presenilins

  2017cites this paper
• Membrane Dynamics of γ-Secretase Provides a Molecular Basis for β-Amyloid Binding and Processing.

  2017cites this paper
• Alzheimer’s disease: How metal ions define β-amyloid function

  2017cites this paper
• Ten Challenges of the Amyloid Hypothesis of Alzheimer’s Disease

  2016cites this paper
• Alzheimer's disease due to loss of function: A new synthesis of the available data.

  2016cites this paper