Search results for "Transferases"

showing 10 items of 426 documents

Genetic Diversity of O-Antigens in Hafnia alvei and the Development of a Suspension Array for Serotype Detection.

2016

Hafnia alvei is a facultative and rod-shaped gram-negative bacterium that belongs to the Enterobacteriaceae family. Although it has been more than 50 years since the genus was identified, very little is known about variations among Hafnia species. Diversity in O-antigens (O-polysaccharide, OPS) is thought to be a major factor in bacterial adaptation to different hosts and situations and variability in the environment. Antigenic variation is also an important factor in pathogenicity that has been used to define clones within a number of species. The genes that are required to synthesize OPS are always clustered within the bacterial chromosome. A serotyping scheme including 39 O-serotypes has…

0301 basic medicineGlycobiologylcsh:MedicineArtificial Gene Amplification and ExtensionGenomePolymerase Chain ReactionBiochemistryDatabase and Informatics MethodsNucleic AcidsGene clusterlcsh:SciencePhylogenyGeneticsMultidisciplinaryChromosome BiologyPolysaccharides BacterialO AntigensEnzymesMultigene FamilySequence AnalysisResearch ArticleDNA Bacterial030106 microbiologySequence DatabasesBiologyResearch and Analysis MethodsSensitivity and SpecificityChromosomesBacterial genetics03 medical and health sciencesTransferasesSequence Motif AnalysisPolysaccharidesGenetic variationAntigenic variationGeneticsSerotypingMolecular Biology TechniquesSequencing TechniquesOperonsGeneMolecular BiologyGenetic diversityCircular bacterial chromosomelcsh:RGenetic VariationReproducibility of ResultsBiology and Life SciencesProteinsHafnia alveiCell BiologyDNABiosynthetic Pathways030104 developmental biologyBiological DatabasesEnzymologylcsh:QSequence AlignmentGenome BacterialPLoS ONE
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Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular proces…

2018

This study provides first insights into the involvement of hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID and yeast ALG3 gene, in various putative molecular networks. HNOT/ALG3 encodes two translated transcripts encoding precursor proteins differing in their N-terminus and showing 33% identity with the yeast asparagine-linked glycosylation 3 (ALG3) protein. Experimental evidence for the functional homology of the proteins of fly and man in the N-glycosylation has still to be provided. In this study, using the yeast two-hybrid technique we identify 17 molecular partners of hNOT-1/ALG3-1. We disclose the building of hNOT/ALG3 homodimers and provide experimental evidence f…

0301 basic medicineGlycosylationSaccharomyces cerevisiae ProteinsRNA-binding proteinSaccharomyces cerevisiaeBiologyEndoplasmic ReticulumMannosyltransferases03 medical and health scienceschemistry.chemical_compoundCongenital Disorders of GlycosylationNeoplasmsNuclear Receptor Subfamily 4 Group A Member 2GeneticsAnimalsDrosophila ProteinsHumansMolecular BiologyTranscription factorOSBPGeneGenetics (clinical)Cellular compartmentEndoplasmic reticulumMembrane ProteinsRNA-Binding ProteinsGeneral MedicineLRP1Cell biology030104 developmental biologychemistryNerve DegenerationDrosophilaCarrier ProteinsHuman molecular genetics
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Analysis of substrate binding in individual active sites of bifunctional human ATIC

2018

Aminoimidazolecarboxamide ribonucleotide formyl transferase (AICARFT): Inosine monophosphate cyclohydrolase (IMPCH, collectively called ATIC) is a bifunctional enzyme that catalyses the penultimate and final steps in the purine de novo biosynthesis pathway. The bifunctional protein is dimeric and each monomer contains two different active sites both of which are capable of binding nucleotide substrates, this means to a potential total of four distinct binding events might be observed. Within this work we used a combination of site-directed and truncation mutants of ATIC to independently investigate the binding at these two sites using calorimetry. A single S10W mutation is sufficient to blo…

0301 basic medicineHydroxymethyl and Formyl TransferasesModels MolecularRibonucleotideStereochemistryBiophysicsBiochemistryAnalytical ChemistrySubstrate Specificity03 medical and health scienceschemistry.chemical_compoundMultienzyme ComplexesCatalytic DomainTransferaseHumansNucleotidePhosphofructokinase 2Bifunctional enzymesMolecular Biologychemistry.chemical_classification030102 biochemistry & molecular biologybiologyNucleotidesActive siteCooperative bindingIsothermal titration calorimetryXanthosine monophosphate030104 developmental biologyBiochemistrychemistryNucleotide DeaminasesMultiple binding sitesbiology.proteinIsothermal titration calorimetryProtein Binding
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Association between Leptin and Complement in Hepatitis C Patients with Viral Clearance: Homeostasis of Metabolism and Immunity

2016

Background The association between leptin and complement in hepatitis C virus (HCV) infection remains unknown. Methods A prospective study was conducted including 474 (250 genotype 1, 224 genotype 2) consecutive chronic hepatitis C (CHC) patients who had completed an anti-HCV therapy course and undergone pre-therapy and 24-week post-therapy assessments of interferon λ3-rs12979860 and HCV RNA/genotypes, anthropometric measurements, metabolic and liver profiles, and complement component 3 (C3), C4, and leptin levels. Results Of the 474 patients, 395 had a sustained virological response (SVR). Pre-therapy leptin levels did not differ between patients with and without an SVR. Univariate and mul…

0301 basic medicineLeptinRNA virusesMaleSteatosisSustained Virologic ResponsePhysiologyPeptide Hormoneslcsh:MedicineAminotransferasesHepacivirusmedicine.disease_causeGastroenterologyBiochemistryBody Mass IndexCytopathologychemistry.chemical_compoundMathematical and Statistical TechniquesHomeostasisProspective Studieslcsh:SciencePathology and laboratory medicineMultidisciplinaryComplement component 3Hepatitis C virusLeptinAlanine TransaminaseComplement C4Hepatitis CComplement C3Medical microbiologyMiddle AgedLipidsEnzymesmedicine.anatomical_structureCholesterolVirusesPhysical SciencesRNA ViralFemaleViral ClearancePathogensStatistics (Mathematics)Research ArticleAdultmedicine.medical_specialtyGenotypeHepatitis C virusResearch and Analysis MethodsMicrobiologyAntiviral AgentsPolymorphism Single Nucleotide03 medical and health sciencesTransferasesWhite blood cellInternal medicineVirologymedicineHumansStatistical MethodsAgedMedicine and health sciencesFlavivirusesCholesterolbusiness.industryInterleukinslcsh:ROrganismsViral pathogensBiology and Life SciencesProteinsComplement System ProteinsHepatitis C Chronicmedicine.diseaseHormonesHepatitis virusesMicrobial pathogens030104 developmental biologychemistryAnatomical PathologyImmunologyMultivariate AnalysisEnzymologylcsh:QInterferonsSteatosisbusinessPhysiological ProcessesBody mass indexMathematicsViral Transmission and InfectionPLoS ONE
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The membrane-bound O-acyltransferase domain-containing 7 variant rs641738 increases inflammation and fibrosis in chronic hepatitis B.

2017

Chronic hepatitis B (CHB) is characterized by hepatic inflammation that promotes progression to cirrhosis and predisposes to the development of hepatocellular carcinoma (HCC). Subtle interindividual genetic variation as well as viral and environmental factors interact to determine disease progression between individuals. Recently, the rs641738 membrane-bound O-acyltransferase domain-containing 7 (MBOAT7) polymorphism was demonstrated to influence histological liver damage in alcoholic liver disease, nonalcoholic fatty liver disease, and hepatitis C, but no data are available for CHB. We evaluated rs641738 influence on disease severity in a cohort of 1,101 patients with CHB. Forty-two patien…

0301 basic medicineLiver CirrhosisMaleAlcoholic liver diseaseCirrhosisSex FactorSeverity of Illness IndexCohort StudiesGene FrequencyFibrosisNon-alcoholic Fatty Liver DiseaseNonalcoholic fatty liver diseaseAge FactorProspective StudiesChronicMembrane ProteinMultivariate AnalysiAge FactorsHepatitis CSingle NucleotideMiddle AgedHepatitis BPrognosisHepatocellular carcinomaDisease ProgressionFemaleHumanAdultmedicine.medical_specialtyLogistic ModelPrognosiAcyltransferaseLiver CirrhosiAcetyltransferases; Acyltransferases; Adult; Age Factors; Cohort Studies; Confidence Intervals; Disease Progression; Female; Gene Frequency; Genetic Predisposition to Disease; Hepatitis B Chronic; Humans; Liver Cirrhosis; Logistic Models; Male; Membrane Proteins; Middle Aged; Multivariate Analysis; Non-alcoholic Fatty Liver Disease; Polymorphism Single Nucleotide; Prognosis; Prospective Studies; Risk Assessment; Severity of Illness Index; Sex FactorsPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesHepatitis B ChronicSex FactorsSDG 3 - Good Health and Well-beingAcetyltransferasesInternal medicineAcetyltransferasemedicineConfidence IntervalsHumansGenetic Predisposition to DiseasePolymorphismHepatologybusiness.industryMembrane ProteinsHepatologymedicine.diseaseMinor allele frequencyProspective Studie030104 developmental biologyLogistic ModelsImmunologyMultivariate AnalysisCohort StudiebusinessConfidence IntervalAcyltransferasesHepatology (Baltimore, Md.)
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MBOAT7 rs641738 variant and hepatocellular carcinoma in non-cirrhotic individuals

2017

AbstractNonalcoholic fatty liver disease (NAFLD) represents an emerging cause of hepatocellular carcinoma (HCC), especially in non-cirrhotic individuals. The rs641738 C > T MBOAT7/TMC4 variant predisposes to progressive NAFLD, but the impact on hepatic carcinogenesis is unknown. In Italian NAFLD patients, the rs641738 T allele was associated with NAFLD-HCC (OR 1.65, 1.08–2.55; n = 765), particularly in those without advanced fibrosis (p < 0.001). The risk T allele was linked to 3’-UTR variation in MBOAT7 and to reduced MBOAT7 expression in patients without severe fibrosis. The number of PNPLA3, TM6SF2, and MBOAT7 risk variants was associated with NAFLD-HCC independently of clinical fa…

0301 basic medicineLiver CirrhosisMaleAlcoholic liver diseasePathologyCirrhosisliver diseasesGastroenterology0302 clinical medicineSettore BIO/13 - Biologia ApplicataNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseasefatty liver-disease; cirrhosis; liver cancer; hepatitis C; hepatocellular carcinoma; liver diseases; fibrosis; carcinogenesis; fatty liver; allelesHCCProspective cohort studySettore MED/12 - GastroenterologiaMultidisciplinaryLiver NeoplasmsQRhepatocellular carcinomaSingle NucleotideMiddle Aged3. Good healthItalyfatty liver-diseaseHepatocellular carcinomaCohortMedicine030211 gastroenterology & hepatologyFemalecarcinogenesisAcyltransferases; Adult; Aged; Carcinoma Hepatocellular; Female; Gene Expression Regulation; Genotype; Humans; Italy; Liver Cirrhosis; Liver Neoplasms; Male; Membrane Proteins; Middle Aged; Non-alcoholic Fatty Liver Disease; Polymorphism Single Nucleotide; Risk Factors; Alleles; Genetic Association Studies; Genetic Predisposition to Disease; Genetic VariationAdultmedicine.medical_specialtyCarcinoma HepatocellularGenotypeSciencePolymorphism Single NucleotideArticleliver cancer03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseAllelePolymorphismAllelesGenetic Association Studiesfatty liverAgedSettore MED/06 - ONCOLOGIA MEDICAbusiness.industrycirrhosisfibrosisCarcinomaGenetic VariationMembrane ProteinsHepatocellularmedicine.diseasedigestive system diseases030104 developmental biologyGene Expression Regulationhepatitis CbusinessAcyltransferasesTM6SF2Scientific Reports
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PARP inhibition enhances tumor cell-intrinsic immunity in ERCC1-deficient non-small cell lung cancer.

2018

The cyclic GMP-AMP synthase/stimulator of IFN genes (cGAS/STING) pathway detects cytosolic DNA to activate innate immune responses. Poly(ADP-ribose) polymerase inhibitors (PARPi) selectively target cancer cells with DNA repair deficiencies such as those caused by BRCA1 mutations or ERCC1 defects. Using isogenic cell lines and patient-derived samples, we showed that ERCC1-defective non-small cell lung cancer (NSCLC) cells exhibit an enhanced type I IFN transcriptomic signature and that low ERCC1 expression correlates with increased lymphocytic infiltration. We demonstrated that clinical PARPi, including olaparib and rucaparib, have cell-autonomous immunomodulatory properties in ERCC1-defecti…

0301 basic medicineLung NeoplasmsDNA repairPoly (ADP-Ribose) Polymerase-1Triple Negative Breast NeoplasmsPoly(ADP-ribose) Polymerase InhibitorsPoly (ADP-Ribose) Polymerase InhibitorB7-H1 AntigenOlaparib03 medical and health scienceschemistry.chemical_compoundInterferon-gamma0302 clinical medicinePARP1Carcinoma Non-Small-Cell LungHumansRucaparibA549 cellChemistryBRCA1 ProteinMembrane ProteinsGeneral MedicineEndonucleasesIsogenic human disease modelsNucleotidyltransferasesDNA-Binding Proteins030104 developmental biologyA549 Cells030220 oncology & carcinogenesisCancer cellCancer researchFemaleResearch ArticleThe Journal of clinical investigation
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Skeletal muscle-specific methyltransferase METTL21C trimethylates p97 and regulates autophagy-associated protein breakdown

2018

Summary: Protein aggregates and cytoplasmic vacuolization are major hallmarks of multisystem proteinopathies (MSPs) that lead to muscle weakness. Here, we identify METTL21C as a skeletal muscle-specific lysine methyltransferase. Insertion of a β-galactosidase cassette into the Mettl21c mouse locus revealed that METTL21C is specifically expressed in MYH7-positive skeletal muscle fibers. Ablation of the Mettl21c gene reduced endurance capacity and led to age-dependent accumulation of autophagic vacuoles in skeletal muscle. Denervation-induced muscle atrophy highlighted further impairments of autophagy-related proteins, including LC3, p62, and cathepsins, in Mettl21c−/− muscles. In addition, w…

0301 basic medicineMaleATPaseVacuoleProtein degradationProtein aggregationMethylationGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesMiceValosin Containing ProteinmedicineAutophagyAnimalsddc:610Muscle Skeletallcsh:QH301-705.5Mice KnockoutbiologyChemistryAutophagySkeletal muscleMuscle weaknessMethyltransferasesMuscle atrophyCell biology030104 developmental biologymedicine.anatomical_structurelcsh:Biology (General)Proteolysisbiology.proteinmedicine.symptom
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Oleoylethanolamide restores alcohol-induced inhibition of neuronal proliferation and microglial activity in striatum

2019

Previous findings demonstrate a homeostatic role for oleoylethanolamide (OEA) signaling in the ethanol-related neuroinflammation and behavior. However, extensive research is still required in order to unveil the effects of OEA on a number of neurobiological functions such as adult neurogenesis, cell survival and resident neuroimmunity that become notably altered by alcohol. Daily consumption of ethanol (10%) for 2 weeks (6.3& #x202F;± 1.1 g/kg/day during last 5 days) caused hypolocomotor activity in rats. This effect appears to rely on central signaling mechanisms given that alcohol increased the OEA levels, the gene expression of OEA-synthesizing enzyme Nape-pld and the number of PPARα-imm…

0301 basic medicineMaleApoptosisOleic AcidsStriatumPPARαOleoylethanolamidechemistry.chemical_compound0302 clinical medicineNeuronseducation.field_of_studyCaspase 3NeurogenesisMicrofilament ProteinsAlanine Transaminasegamma-GlutamyltransferaseHepatobiliary EliminationEthanolaminesMicrogliaAlcoholProto-Oncogene Proteins c-fosLocomotionFOSBSignal Transductionmedicine.medical_specialtyAlcohol DrinkingCell SurvivalPolyunsaturated AlkamidesNeurogenesisPopulationCaspase 3Arachidonic AcidsStriatumAmidohydrolases03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicineGlial Fibrillary Acidic ProteinmedicinePhospholipase DAnimalsPPAR alphaAspartate AminotransferasesProgenitor cellRats WistareducationNeuroinflammationCell ProliferationPharmacologyEthanolCalcium-Binding ProteinsRatsNeostriatum030104 developmental biologyEndocrinologychemistry030217 neurology & neurosurgeryEndocannabinoids
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Blimp1 Prevents Methylation of Foxp3 and Loss of Regulatory T Cell Identity at Sites of Inflammation

2018

Summary Foxp3+ regulatory T (Treg) cells restrict immune pathology in inflamed tissues; however, an inflammatory environment presents a threat to Treg cell identity and function. Here, we establish a transcriptional signature of central nervous system (CNS) Treg cells that accumulate during experimental autoimmune encephalitis (EAE) and identify a pathway that maintains Treg cell function and identity during severe inflammation. This pathway is dependent on the transcriptional regulator Blimp1, which prevents downregulation of Foxp3 expression and “toxic” gain-of-function of Treg cells in the inflamed CNS. Blimp1 negatively regulates IL-6- and STAT3-dependent Dnmt3a expression and function …

0301 basic medicineMaleEncephalomyelitis Autoimmune ExperimentalBlimp1CNS2Regulatory T cellInflammationchemical and pharmacologic phenomenaBiologyT-Lymphocytes RegulatoryGeneral Biochemistry Genetics and Molecular BiologyArticleepigenetic regulationDNA Methyltransferase 3AEpigenesis Genetic03 medical and health sciencesGenomic ImprintingMice0302 clinical medicineImmune systemDownregulation and upregulationmedicineAnimalsEpigeneticsDNA (Cytosine-5-)-Methyltransferaseslcsh:QH301-705.5Regulation of gene expressionInterleukin-6FOXP3Forkhead Transcription FactorsDNA methyltransferaseshemic and immune systemsDNA Methylation3. Good healthCell biologyddc:Mice Inbred C57BL030104 developmental biologymedicine.anatomical_structureregulatory T cellslcsh:Biology (General)inflammationFoxp3DNA methylationFemalePositive Regulatory Domain I-Binding Factor 1medicine.symptomCNS030217 neurology & neurosurgeryCell Reports
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