Search results for "ACTIVATION"

showing 10 items of 2079 documents

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

2019

Abstract N-alpha-acetylation is one of the most common co-translational protein modifications in humans and is essential for normal cell function. NAA10 encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. The auxiliary and regulatory subunits of the NatA complex are NAA15 and Huntington-interacting protein (HYPK), respectively. Through a genotype-first approach with exome sequencing, we identified and phenotypically characterized 30 individuals from 30 unrelated families with 17 different de novo or inherited, dominantly acting missense variants in NAA10 or NAA15. Clinical features of affected individuals include variable levels…

MaleModels Molecular0301 basic medicineProtein ConformationMicrophthalmia0302 clinical medicineEnzyme StabilityMissense mutationN-Terminal Acetyltransferase EChildN-Terminal Acetyltransferase AExome sequencingGenetics (clinical)GeneticsbiologyGeneral MedicinePhenotypeRecombinant ProteinsChemistryPhenotypeChild PreschoolHMG-CoA reductaseCohortFemaleGeneral ArticleCorrigendumAdultNatA complexmedicine.medical_specialtyAdolescentGenotypeFrameshift mutationStructure-Activity RelationshipYoung Adult03 medical and health sciencesMolecular geneticsGeneticsmedicineHumansGenetic Predisposition to DiseaseGenetic TestingAlleleBiologyMolecular BiologyAllelesGenetic Association StudiesComputational BiologyFaciesGenetic VariationInfantmedicine.diseaseEnzyme ActivationLenz microphthalmia syndrome030104 developmental biologyGenetic LociMutationbiology.proteinHuman medicineBiomarkers030217 neurology & neurosurgeryNAA15Human molecular genetics
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Distant Homology Modeling of LCAT and Its Validation through In Silico Targeting and In Vitro and In Vivo Assays

2013

LCAT (lecithin:cholesterol acyltransferase) catalyzes the transacylation of a fatty acid of lecithin to cholesterol, generating a cholesteryl ester and lysolecithin. The knowledge of LCAT atomic structure and the identification of the amino acids relevant in controlling its structure and function are expected to be very helpful to understand the enzyme catalytic mechanism, as involved in HDL cholesterol metabolism. However - after an early report in the late '90 s - no recent advance has been made about LCAT three-dimensional structure. In this paper, we propose an LCAT atomistic model, built following the most up-to-date molecular modeling approaches, and exploiting newly solved crystallog…

MaleModels MolecularProtein StructureDrug Research and DevelopmentProtein Conformationlcsh:MedicineBiologyBiochemistryCatalysisSubstrate SpecificityPhosphatidylcholine-Sterol O-AcyltransferaseMicechemistry.chemical_compoundEnzyme activatorTransacylationProtein structureDrug DiscoveryHydrolaseCatalytic triadBiochemical SimulationsMedicine and Health SciencesAnimalsHumansHomology modelingBiomacromolecule-Ligand Interactionslcsh:SciencePharmacologyBinding SitesPlasma ProteinsMultidisciplinarylcsh:RBiology and Life SciencesProteinsEnzyme structureEnzyme ActivationMolecular Docking SimulationchemistryBiochemistryMutationEnzyme StructureEnzymologyBiocatalysisCholesteryl esterlcsh:QResearch ArticleBiotechnologyPLoS ONE
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Validity of the Pupillographic Sleepiness Test for the diagnosis of daytime sleepiness in children and adolescents and its relationship to sleepiness…

2021

Objectives: To report validation data for the Pupillographic Sleepiness Test (PST) in children and adolescents, evaluate its applicability for diagnosing excessive daytime sleepiness and its relationship to sleepiness-associated outcomes. Methods: A cross-sectional diagnostic test accuracy study was performed. Patients underwent three PST at 9 a.m. (T1), 11 a.m. (T2) and 1 p.m. (T3) plus the Multiple Sleep Latency Test (MSLT) on a single day. Additionally, two neurocognitive tests were performed and three questionnaires about quality of life, sleep-related self-efficacy and behavioural aspects completed. Gender-stratified z-values of the natural logarithm of the Pupillary Unrest Index (z-ln…

MaleMultiple Sleep Latency Testmedicine.medical_specialtySleepinessAdolescentExcessive daytime sleepinessDisorders of Excessive SomnolenceAudiologyDaytime sleepinessCorrelation03 medical and health sciences0302 clinical medicineQuality of lifeHumansMedicineWakefulnessChildSleepiness testingRank correlationHypersomniaCentral nervousReceiver operating characteristicmedicine.diagnostic_testPupillographybusiness.industryArea under the curveGeneral MedicineAlertnessCross-Sectional Studies030228 respiratory systemQuality of LifePupillographyactivationFemalemedicine.symptombusiness030217 neurology & neurosurgerySleep Medicine
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Single cell detection of latent cytomegalovirus reactivation in host tissue

2011

The molecular mechanisms leading to reactivation of latent cytomegalovirus are not well understood. To study reactivation, the few cells in an organ tissue that give rise to reactivated virus need to be identified, ideally at the earliest possible time point in the process. To this end, mouse cytomegalovirus (MCMV) reporter mutants were designed to simultaneously express the red fluorescent protein mCherry and the secreted Gaussia luciferase (Gluc). Whereas Gluc can serve to assess infection at the level of individual mice by measuring luminescence in blood samples or by in vivo imaging, mCherry fluorescence offers the advatage of detection of infection at the single cell level. To visualiz…

MaleMuromegalovirusCytomegalovirusGene Expressionmedicine.disease_causeVirusHerpesviridaeGreen fluorescent proteinMiceGaussiaMuromegalovirusSingle-cell analysisGenes ReporterVirologyVirus latencymedicineAnimalsHumansLuciferasesLungMice Inbred BALB CbiologyHerpesviridae Infectionsbiology.organism_classificationmedicine.diseaseVirologyVirus LatencyDisease Models AnimalLuminescent ProteinsCytomegalovirus InfectionsHost-Pathogen InteractionsFemaleVirus ActivationSingle-Cell AnalysismCherryJournal of General Virology
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Liver Sinusoidal Endothelial Cells Are a Site of Murine Cytomegalovirus Latency and Reactivation▿

2009

ABSTRACT Latent cytomegalovirus (CMV) is frequently transmitted by organ transplantation, and its reactivation under conditions of immunosuppressive prophylaxis against graft rejection by host-versus-graft disease bears a risk of graft failure due to viral pathogenesis. CMV is the most common cause of infection following liver transplantation. Although hematopoietic cells of the myeloid lineage are a recognized source of latent CMV, the cellular sites of latency in the liver are not comprehensively typed. Here we have used the BALB/c mouse model of murine CMV infection to identify latently infected hepatic cell types. We performed sex-mismatched bone marrow transplantation with male donors …

MaleMuromegalovirusMyeloidGenes ViralViral pathogenesisImmunologymedicine.disease_causeMicrobiologyHerpesviridaeVirusMiceAntigenBetaherpesvirinaeVirologyVirus latencymedicineAnimalsMice Inbred BALB CbiologyGene Expression ProfilingEndothelial Cellsbiology.organism_classificationmedicine.diseaseVirologyVirus LatencyHaematopoiesismedicine.anatomical_structureLiverInsect ScienceImmunologyPathogenesis and ImmunityFemaleVirus Activation
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Differential modulation of CYP2E1 activity by cAMP-dependent protein kinase upon Ser129 replacement.

1998

Many toxic compounds are activated by cytochrome P450 (CYP) 2E1 to reactive metabolites, which represents a potential hazard for cellular homeostasis. Therefore knowledge about CYP2E1 regulation could be of great biological importance. It has been shown that CYP2E1 is controlled transcriptionally and post-translationally by phosphorylation. In the present study we investigated the role of serine-129 (Ser129) in the protein kinase A (PKA) recognition sequence motif Arg-Arg-Phe-Ser129. To gain further insights into the possible relevance of Ser129 for CYP2E1 function, Ser129 was replaced by alanine (Ala) or glycine (Gly) by site-directed mutations of the cDNA coding for CYP2E1. The mutant cDN…

MaleMutantCellular homeostasisTransfectionDimethylnitrosamineSubstrate SpecificityRats Sprague-DawleyMiceCricetulusCricetinaeIsoniazidSerineAnimalsEnzyme inducerPhosphorylationProtein kinase ALungCells Culturedchemistry.chemical_classificationMice Inbred BALB CbiologyCytochrome P-450 CYP2E1Cell BiologyFibroblastsMolecular biologyCyclic AMP-Dependent Protein KinasesAmino acidRatsEnzymechemistryBiochemistryAmino Acid SubstitutionBucladesineEnzyme InductionInactivation MetabolicMutationbiology.proteinMicrosomes LiverPhosphorylationDemethylaseMutagensExperimental cell research
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SARS‐CoV‐2‐reactive interferon‐γ‐producing CD8+ T cells in patients hospitalized with coronavirus disease 2019

2020

Abstract There is limited information on severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) T‐cell immune responses in patients with coronavirus disease 2019 (COVID‐19). Both CD4+ and CD8+ T cells may be instrumental in resolution of and protection from SARS‐CoV‐2 infection. Here, we tested 25 hospitalized patients either with microbiologically documented COVID‐19 (n = 19) or highly suspected of having the disease (n = 6) for presence of SARS‐CoV‐2‐reactive CD69+ expressing interferon‐γ (IFN‐γ) producing CD8+ T cells using flow‐cytometry for intracellular cytokine staining assay. Two sets of overlapping peptides encompassing the SARS‐CoV‐2 Spike glycoprotein N‐terminal 1 to 643 am…

MaleMyeloma proteinCD8-Positive T-LymphocytesAntibodies ViralLymphocyte ActivationCD8+ T cellsSARS‐CoV‐2Blood cell03 medical and health sciencesInterferon-gamma0302 clinical medicineImmune systemAntigenCOVID‐19Intensive careVirologyCytotoxic T cellMedicineHumans030212 general & internal medicineResearch ArticlesAgedAged 80 and overbiologybusiness.industryfungiCOVID-19T‐cell immunityMiddle AgedVirologyHospitalizationmedicine.anatomical_structureInfectious DiseasesImmunoglobulin GSpike Glycoprotein Coronavirusbiology.protein030211 gastroenterology & hepatologyFemaleAntibodybusinessCD8Preliminary DataResearch ArticleJournal of Medical Virology
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Monitoring White Blood Cell Mitochondrial Aldehyde Dehydrogenase Activity: Implications for Nitrate Therapy in Humans

2009

Recent animal data suggest that reduced lipoic acid (LA) prevents oxidative inhibition of the nitrate bioactivating enzyme, the mitochondrial aldehyde dehydrogenase (ALDH-2), and that pentaerythritol tetranitrate (PETN) does not induce nitrate tolerance because of its intrinsic antioxidative properties, thereby preserving ALDH-2 activity. We sought to determine whether ALDH-2 activity in circulating white blood cells (WBCs) can be used to monitor nitrate tolerance and whether LA can prevent nitroglycerin tachyphylaxis in humans. Eight healthy male volunteers received, in randomized order, a single dose of glyceryl trinitrate (GTN; 0.8 mg), PETN (80 mg), or GTN plus LA (600 mg) orally. GTN (…

MaleMyocardial IschemiaAldehyde dehydrogenasePentaerythritol tetranitrateVasodilationTachyphylaxisPharmacologymedicine.disease_causeMitochondria Heartchemistry.chemical_compoundAnimal dataWhite blood cellLeukocytesmedicineAnimalsHumansRats WistarPharmacologyNitratesbiologyAldehyde DehydrogenaseRatsEnzyme ActivationVasodilationLipoic acidmedicine.anatomical_structurechemistrybiology.proteinMolecular MedicineOxidative stresscirculatory and respiratory physiologyJournal of Pharmacology and Experimental Therapeutics
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Novel Small Molecule Inhibitor of C1s Exerts Cardioprotective Effects in Ischemia-Reperfusion Injury in Rabbits

2001

Abstract Myocardial ischemia-reperfusion injury can be related to complement activation with generation of chemotactic agents, adhesion molecule expression, release of cytokines and oxygen-derived free radicals, and subsequent neutrophil accumulation. In the present study the cardioprotective effects of a novel highly selective small molecule C1s inhibitor (C1s-INH-248, Knoll) were examined in a rabbit model of myocardial ischemia (I) and reperfusion (R; i.e., 60 min I + 180 min R). In in vitro tests (enzyme activity and SRBC lysis) C1s-INH-248 demonstrated profound inhibitory potency. In vivo C1s-INH-248 (1 mg/kg body weight) administered 5 min before reperfusion significantly attenuated m…

MaleNecrosisEndotheliumNeutrophilsG proteinImmunologyMyocardial IschemiaIschemiaMyocardial Reperfusion InjuryComplement C1 Inactivator ProteinsPharmacologyHemolysisLeukocyte CountClassical complement pathwaySuperoxidesIn vivomedicineAnimalsImmunology and AllergyComplement Activationbusiness.industryHemodynamicsmedicine.diseaseComplement systemmedicine.anatomical_structureAnesthesiaEndothelium VascularRabbitsmedicine.symptombusinessReperfusion injuryThe Journal of Immunology
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Effects of chronic fluoxetine treatment on the rat somatosensory cortex: Activation and induction of neuronal structural plasticity

2009

Recent hypotheses support the idea that disruption of normal neuronal plasticity mechanisms underlies depression and other psychiatric disorders, and that antidepressant treatment may counteract these changes. In a previous report we found that chronic fluoxetine treatment increases the expression of the polysialylated form of the neural cell adhesion molecule (PSA-NCAM), a molecule involved in neuronal structural plasticity, in the somatosensory cortex. In the present study we intended to find whether, in fact, cell activation and neuronal structural remodeling occur in parallel to changes in the expression of this molecule. Using immunohistochemistry, we found that chronic fluoxetine trea…

MaleNeuronsNeuronal PlasticityDose-Response Relationship DrugGeneral NeuroscienceCentral nervous systemHippocampusSomatosensory CortexBiologySomatosensory systemRatsRats Sprague-Dawleymedicine.anatomical_structurenervous systemFluoxetineApical dendriteNeuroplasticitymedicineAnimalsAntidepressive Agents Second-GenerationNeural cell adhesion moleculeCell activationPrefrontal cortexNeuroscienceNeuroscience Letters
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