Search results for "AMINO ACID"

showing 10 items of 3965 documents

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

2017

International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68…

0301 basic medicineLinkage disequilibrium[SDV]Life Sciences [q-bio]MedizinSequence HomologyGenome-wide association studygenetics [Alzheimer Disease]metabolism [Microglia]Linkage Disequilibrium0302 clinical medicinegenetics [Protein Interaction Maps]genetics [Membrane Glycoproteins]Gene FrequencyImmunologicgenetics [Adaptor Proteins Signal Transducing]Receptorsgenetics [Exome]Odds RatioInnategenetics [Receptors Immunologic]ExomeProtein Interaction Mapsgenetics [Genetic Predisposition to Disease]Receptors ImmunologicABI3 protein humanGeneticsAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide; GeneticsMembrane GlycoproteinsAdaptor ProteinsSingle NucleotideAdaptor Proteins Signal Transducing; Alzheimer Disease; Amino Acid Sequence; Case-Control Studies; Exome; Gene Expression Profiling; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Immunity Innate; Linkage Disequilibrium; Membrane Glycoproteins; Microglia; Odds Ratio; Phospholipase C gamma; Protein Interaction Maps; Receptors Immunologic; Sequence Homology Amino Acid; Polymorphism Single Nucleotide3. Good health[SDV] Life Sciences [q-bio]Amino AcidSettore MED/26 - NEUROLOGIAgenetics [Phospholipase C gamma][SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]MicrogliaAlzheimer's diseaseCommon disease-common variantGenotypeBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer Diseaseddc:570medicineJournal ArticleGeneticsHumansGenetic Predisposition to Disease[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Amino Acid SequencePolymorphismAllele frequencyAdaptor Proteins Signal TransducingTREM2 protein humanSequence Homology Amino AcidTREM2Phospholipase C gammaGene Expression ProfilingCase-control studySignal TransducingImmunitymedicine.diseaseR1Immunity InnateMinor allele frequencygenetics [Immunity Innate]030104 developmental biologyCase-Control StudiesHuman medicine030217 neurology & neurosurgery
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TLR4 stimulation by LPS enhances angiogenesis in a co-culture system consisting of primary human osteoblasts and outgrowth endothelial cells

2015

The development of new approaches leading to fast and successful vascularization of tissue-engineered constructs is one of the most intensively studied subjects in tissue engineering and regenerative medicine. Recently, TLR4 activation and LPS stimulation of endothelial cells have been reported to promote angiogenesis in a variety of settings. In this study, we demonstrate that TLR4 activation by Ultrapure LPS Escherichia coli 0111:B4 (LPS-EB) significantly enhances microvessel formation in a co-culture system consisting of outgrowth endothelial cells (OECs) and primary human osteoblasts (pOBs). The precise modes of TLR4 action on the process of angiogenesis have also been investigated in t…

0301 basic medicineLipopolysaccharideAngiogenesisCell adhesion moleculeBiomedical EngineeringMedicine (miscellaneous)BiologyRegenerative medicineCell biologyBiomaterials03 medical and health scienceschemistry.chemical_compound030104 developmental biologyTissue engineeringchemistryIn vivoImmunologyTLR4lipids (amino acids peptides and proteins)MicrovesselJournal of Tissue Engineering and Regenerative Medicine
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Host-based lipid inflammation drives pathogenesis in Francisella infection

2017

Mass spectrometry imaging (MSI) was used to elucidate host lipids involved in the inflammatory signaling pathway generated at the host-pathogen interface during a septic bacterial infection. Using Francisella novicida as a model organism, a bacterial lipid virulence factor (endotoxin) was imaged and identified along with host phospholipids involved in the splenic response in murine tissues. Here, we demonstrate detection and distribution of endotoxin in a lethal murine F. novicida infection model, in addition to determining the temporally and spatially resolved innate lipid inflammatory response in both 2D and 3D renderings using MSI. Further, we show that the cyclooxygenase-2-dependent lip…

0301 basic medicineLipopolysaccharideDIVERSITYGene ExpressionLIPOPOLYSACCHARIDEhost-pathogen interactionmedicine.disease_cause01 natural sciencesMass SpectrometryVirulence factorMicechemistry.chemical_compoundlipid inflammationcyclooxygenase pathwayHETEROGENEITYFrancisellaPhospholipidsMice KnockoutMultidisciplinarybiologyTULAREMIABiological SciencesMolecular ImagingHost-Pathogen InteractionsFrancisellalipids (amino acids peptides and proteins)FemaleSignal TransductionLPSHost–pathogen interactionmicrobial pathogenesismass spectrometry imagingDinoprostoneMicrobiologyCyclooxygenase pathwayProinflammatory cytokine03 medical and health sciencesImmune systemIMAGING MASS-SPECTROMETRYmedicineAnimalsBIOSYNTHESISFrancisella novicidaInflammationMacrophages010401 analytical chemistrybacterial infections and mycosesbiology.organism_classificationSurvival AnalysisImmunity Innate0104 chemical sciencesEndotoxinsMice Inbred C57BL030104 developmental biologychemistryCyclooxygenase 2EicosanoidsGram-Negative Bacterial InfectionsSpleenProceedings of the National Academy of Sciences
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Human apolipoprotein A-I Gly26Arg stimulation of inflammatory responses via NF-kB activation: Potential roles in amyloidosis?

2018

The cascade of molecular events leading to Human apolipoprotein A–I (apoA–I) amyloidosis is not completely understood, not even the pathways that determine clinical manifestations associated to systemic protein deposition in organs such as liver, kidney and heart. About twenty natural variants of apoA–I were described as inducing amyloidosis, but the mechanisms driving their aggregation and deposition are still unclear. We previously identified that the mutant Gly26Arg but not Lys107-0 induced the release of cytokines and reactive oxygen species from cultured RAW 264.7 murine macrophages, suggesting that part of the pathogenic pathway could elicit of an inflammatory signal. In this work we …

0301 basic medicineLipopolysaccharideMACROPHAGES ACTIVATIONMutantStimulationInflammationOxidative phosphorylationPathology and Forensic MedicineCiencias Biológicas03 medical and health scienceschemistry.chemical_compoundINFLAMMATIONPhysiology (medical)APOLIPOPROTEIN A-I VARIANTSmedicineNUCLEAR FACTOR-ΚBchemistry.chemical_classificationReactive oxygen speciesAmyloidosisNF-κBBioquímica y Biología Molecularmedicine.diseaseCell biology030104 developmental biologychemistryAMYLOIDOSISlipids (amino acids peptides and proteins)medicine.symptomCIENCIAS NATURALES Y EXACTASPathophysiology
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Transforming growth factor β (CiTGF-β) gene expression is induced in the inflammatory reaction of Ciona intestinalis.

2016

Transforming growth factor (TGF-β) is a well-known component of a regulatory cytokines superfamily that has pleiotropic functions in a broad range of cell types and is involved, in vertebrates, in numerous physiological and pathological processes. In the current study, we report on Ciona intestinalis molecular characterisation and expression of a transforming growth factor β homologue (CiTGF-β). The gene organisation, phylogenetic tree and modelling supported the close relationship with the mammalian TGF suggesting that the C. intestinalis TGF-β gene shares a common ancestor in the chordate lineages. Functionally, real-time PCR analysis showed that CiTGF-β was transcriptionally upregulated …

0301 basic medicineLipopolysaccharidesCell typeHemocytesTGFbeta Ciona intestinalisCellular differentiationImmunologyMolecular Sequence DataSettore BIO/05 - ZoologiaBiology03 medical and health sciences0302 clinical medicineImmune systemTranscription (biology)Transforming Growth Factor betaGene expressionAnimalsCiona intestinalisAmino Acid SequenceCloning MolecularGenePhylogenyInflammationMammalsbiology.organism_classificationImmunity InnateCell biologyCiona intestinalisUp-Regulation030104 developmental biologyImmunologyPharynx030217 neurology & neurosurgeryDevelopmental BiologyTransforming growth factorDevelopmental and comparative immunology
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Ceftaroline modulates the innate immune and host defense responses of immunocompetent cells exposed to cigarette smoke.

2017

Abstract Background Cigarette smoke, the principal risk factor for chronic obstructive pulmonary disease (COPD), negatively influences the effectiveness of the immune system’s response to a pathogen. The antibiotic ceftaroline exerts immune-modulatory effects in bronchial epithelial cells exposed to cigarette smoke. Aims and methods The present study aims to assess the effects of ceftaroline on TLR2 and TLR4 expression, LPS binding and TNF-α and human beta defensin (HBD2) release in an undifferentiated and PMA-differentiated human monocyte cell line (THP-1) exposed or not to cigarette smoke extracts (CSE). TLR2, TLR4, and LPS binding were assessed by flow cytometry, TNF-α and HBD2 release w…

0301 basic medicineLipopolysaccharidesbeta-DefensinsCell SurvivalCephalosporinLipopolysaccharideToxicologyMonocytes03 medical and health sciencesImmunologic Factor0302 clinical medicineImmune systemCell Line TumorSmokeAnti-Bacterial AgentmedicineHumansImmunologic FactorsInnate immune systemImmunocompetent cellDose-Response Relationship Drugbusiness.industryTumor Necrosis Factor-alphaMonocyteMacrophagesSmokingAntibioticCigarette smokeGeneral MedicineImmunity InnateToll-Like Receptor 2Anti-Bacterial AgentsCephalosporinsHost-Pathogen InteractionToll-Like Receptor 4TLR2030104 developmental biologymedicine.anatomical_structureBeta defensinCell cultureImmunologyHost-Pathogen InteractionsTLR4lipids (amino acids peptides and proteins)Tumor necrosis factor alphabusinessImmunocompetence030215 immunologyToxicology letters
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Amyloid β-peptide insertion in liposomes containing GM1-cholesterol domains.

2015

Neuronal membrane damage is related to the early impairments appearing in Alzheimer's disease due to the interaction of the amyloid β-peptide (Aβ) with the phospholipid bilayer. In particular, the ganglioside GM1, present with cholesterol in lipid rafts, seems to be able to initiate Aβ aggregation on membrane. We studied the thermodynamic and structural effects of the presence of GM1 on the interaction between Aβ and liposomes, a good membrane model system. Isothermal Titration Calorimetry highlighted the importance of the presence of GM1 in recruiting monomeric Aβ toward the lipid bilayer. Light and Small Angle X-ray Scattering revealed a different pattern for GM1 containing liposomes, bot…

0301 basic medicineLiposomeGangliosideAmyloid beta-PeptidesAmyloidCalorimetry Differential ScanningChemistryBilayerOrganic ChemistryBiophysicsIsothermal titration calorimetryG(M1) GangliosideBiochemistry03 medical and health sciences030104 developmental biologyMembraneCholesterolBiochemistryLiposomesThermodynamicslipids (amino acids peptides and proteins)A?-membrane interaction; Double layer perturbation; Isothermal titration calorimetry; Small angle X-ray scatteringLipid bilayerLipid raftBiophysical chemistry
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Lysyl Oxidase (LOX) Family Members: Rationale and Their Potential as Therapeutic Targets for Liver Fibrosis.

2019

The cross-linking of structural extracellular matrix (ECM) components, especially fibrillar collagens and elastin, is strongly implicated in fibrosis progression and resistance to fibrosis reversal. Lysyl oxidase family members (LOX and LOXL1 [lysyl oxidase-like 1], LOXL2 [lysyl oxidase-like 2], LOXL3 [lysyl oxidase-like 3], and LOXL4 [lysyl oxidase like 4]) are extracellular copper-dependent enzymes that play a key role in ECM cross-linking, but have also other intracellular functions relevant to fibrosis and carcinogenesis. Although the expression of most LOX family members is elevated in experimental liver fibrosis of diverse etiologies, their individual contribution to fibrosis is incom…

0301 basic medicineLiver CirrhosisLysyl oxidaseExtracellular matrixProtein-Lysine 6-Oxidase03 medical and health sciences0302 clinical medicineFibrosisExtracellularmedicineAnimalsHumansLOXL3integumentary systemHepatologyLOXL2biologybusiness.industrymedicine.diseaseenzymes and coenzymes (carbohydrates)030104 developmental biologySimtuzumabCancer researchbiology.protein030211 gastroenterology & hepatologyAmino Acid OxidoreductasesbusinessElastinHepatology (Baltimore, Md.)References
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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology
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Negatively Charged Gangliosides Promote Membrane Association of Amphipathic Neurotransmitters

2018

Lipophilic neurotransmitters (NTs) such as dopamine are chemical messengers enabling neurotransmission by adhering onto the extracellular surface of the post-synaptic membrane in a synapse, followed by binding to their receptors. Previous studies have shown that the strength of the NT-membrane association is dependent on the lipid composition of the membrane. Negatively charged lipids such as phosphatidylserine, phosphatidylglycerol, and phosphatidic acid have been indicated to promote NT-membrane binding, however these anionic lipids reside almost exclusively in the intracellular leaflet of the post-synaptic membrane instead of the extracellular leaflet facing the synaptic cleft. Meanwhile…

0301 basic medicineMOLECULAR-DYNAMICS SIMULATIONSBIOMOLECULAR SYSTEMSkolesteroliasetyylikoliiniSynaptic TransmissionsolukalvotCell membranechemistry.chemical_compoundSCHIZOPHRENIAmolekyylidynamiikkamolecular dynamics (MD)neurotransmissionvälittäjäaineetChemistryLIPID-MEMBRANESGeneral NeurosciencePhosphatidylserineALZHEIMERS-DISEASEMembranemedicine.anatomical_structureHAMILTONIAN REPLICA EXCHANGElipids (amino acids peptides and proteins)dopamineIntracellularneurotransmittermonosialotetrahexosylganglioside (GM1)Synaptic cleftG(M1) GangliosideMolecular Dynamics SimulationNeurotransmission03 medical and health sciencesExtracellularmedicineAnimalsmonosialotetrahexosylgangliosidebinding free energyPhosphatidylglyceroldopamiiniBinding SitesCell Membranehistamiini3112 Neurosciencesta1182cholesterolBILAYERhistamineacetylcholinehermosolut030104 developmental biologyFORCE-FIELDBiophysicssynapsit
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