Search results for "TRANSFERASE"

showing 10 items of 1030 documents

The emerging role of lysine methyltransferase SETD8 in human diseases

2016

SETD8/SET8/Pr-SET7/KMT5A is the only known lysine methyltransferase (KMT) that monomethylates lysine 20 of histone H4 (H4K20) in vivo. Lysine residues of non-histone proteins including proliferating cell nuclear antigen (PCNA) and p53 are also monomethylated. As a consequence, the methyltransferase activity of the enzyme is implicated in many essential cellular processes including DNA replication, DNA damage response, transcription modulation, and cell cycle regulation. This review aims to provide an overview of the roles of SETD8 in physiological and pathological pathways and to discuss the progress made to date in inhibiting the activity of SETD8 by small molecules, with an emphasis on th…

0301 basic medicineMethyltransferaseDNA damageLysineDNA replicationReviewBiologyCell cycleProliferating cell nuclear antigenHistone H403 medical and health sciences030104 developmental biology0302 clinical medicineBiochemistry030220 oncology & carcinogenesisHistone methyltransferaseGeneticsbiology.proteinMolecular BiologyGenetics (clinical)Developmental BiologyClinical Epigenetics
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Methylation of cytokines gene promoters in IL-1β-treated human intestinal epithelial cells

2017

Objective and design: Epigenetic regulation is important in the activation of inflammatory cells. In the present study, we evaluated if DNA-methylation variations are involved in Interleukin-1β (IL-1β)-induced intestinal epithelial cells activation. Materials and methods: Differentiated Caco-2 cells were exposed to IL-1β or to 5-azadeoxycytidine (5-azadC) for 24 or 48 h. Genome-wide methylation status was evaluated, while DNA methylation status at the promoter region of the gene encoding interleukin-6, 8 and 10 (IL-6, 8 and 10) was estimated. The levels of the corresponding gene products as well as DNA methyltransferases (DNMTs) quantity were assessed. Results: IL-1β decreased genomic m…

0301 basic medicineMethyltransferaseInterleukin-1betaImmunologyEpigenesis GeneticCaco-2 cell03 medical and health sciences0302 clinical medicineSettore BIO/13 - Biologia ApplicataSettore BIO/10 - BiochimicaHumansIL-1βEpigeneticsInterleukin 8Intestinal MucosaPromoter Regions GeneticDNA Modification MethylasesGeneInflammationPharmacologyDNA methylationChemistryInterleukinsPromoterMethylationMolecular biologySettore BIO/18 - Genetica030104 developmental biology030220 oncology & carcinogenesisDNA methylationDNMT1Caco-2 CellsInflammation MediatorsInflammation Research
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Molecular Mechanism of Inhibition of DNA Methylation by Zebularine

2017

In this work, we have analyzed the molecular mechanism of inhibition of a C5-DNA methyltransferase by zebularine using classical and QM/MM simulations. We found that the reaction proceeds with the addition of an unprotonated cysteine to the C6 position of the ring followed by methyl transfer to the C5 position. However, while the first step is reversible and presents a moderate free-energy barrier, the second step presents a large free-energy barrier, preventing the formation of the methylated complex. This mechanistic proposal agrees with recent experimental observations that point to the formation of a reversible covalent complex between DNA containing zebularine and methyltransferases. T…

0301 basic medicineMethyltransferaseStereochemistrySubstrate (chemistry)General ChemistryCatalysisQM/MM03 medical and health scienceschemistry.chemical_compound030104 developmental biologychemistryZebularineCovalent bondDNACytosineCysteineACS Catalysis
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On the (un)coupling of the chromophore, tongue interactions, and overall conformation in a bacterial phytochrome

2018

Phytochromes are photoreceptors in plants, fungi, and various microorganisms and cycle between metastable red light-absorbing (Pr) and far-red light-absorbing (Pfr) states. Their light responses are thought to follow a conserved structural mechanism that is triggered by isomerization of the chromophore. Downstream structural changes involve refolding of the so-called tongue extension of the phytochrome-specific GAF-related (PHY) domain of the photoreceptor. The tongue is connected to the chromophore by conserved DIP and PRXSF motifs and a conserved tyrosine, but the role of these residues in signal transduction is not clear. Here, we examine the tongue interactions and their interplay with …

0301 basic medicineModels MolecularCrystallography X-RayBiochemistrybakteeritProtein structurephotoconversionchromophore-binding domainTransferasestructural biologyCRYSTAL-STRUCTURETyrosineDEINOCOCCUS-RADIODURANSbiologyPhytochromeChemistryREARRANGEMENTSProtein Structure and FoldingDeinococcusmutagenesisBinding domainSignal TransductionMODULEPLANT PHYTOCHROMEPhenylalaninefotobiologia03 medical and health sciencesBacterial Proteinsprotein conformationcell signalingprotein structureBACTERIOPHYTOCHROMEMolecular BiologyX-ray crystallographysoluviestintäphytochromeAGP1BINDING DOMAINBinding Sitesta114030102 biochemistry & molecular biologyta1182Deinococcus radioduransCell BiologyChromophorebiology.organism_classificationphotoreceptor030104 developmental biologyStructural biologyFTIRBiophysicsTyrosineproteiinit3111 Biomedicineröntgenkristallografia
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Identification of the Privileged Position in the Imidazo[1,2-a]pyridine Ring of Phosphonocarboxylates for Development of Rab Geranylgeranyl Transfera…

2017

Members of the Rab GTPase family are master regulators of vesicle trafficking. When disregulated, they are associated with a number of pathological states. The inhibition of RGGT, an enzyme responsible for post-translational geranylgeranylation of Rab GTPases represents one way to control the activity of these proteins. Because the number of molecules modulating RGGT is limited, we combined molecular modeling with biological assays to ascertain how modifications of phosphonocarboxylates, the first reported RGGT inhibitors, rationally improve understanding of their structure-activity relationship. We have identified the privileged position in the core scaffold of the imidazo[1,2-a]pyridine r…

0301 basic medicineMolecular modelPyridinesOrganophosphonatesProtein PrenylationAntineoplastic AgentsGTPase01 natural sciencesHeLa03 medical and health sciencesStructure-Activity RelationshipGeranylgeranylationPrenylationDrug DiscoveryStructure–activity relationshipHumansEnzyme Inhibitorsta116Cell Proliferationchemistry.chemical_classificationAlkyl and Aryl Transferasesbiology010405 organic chemistryrab geranylgeranyl transferaseta1182biology.organism_classification0104 chemical sciencesCell biologyMolecular Docking Simulation030104 developmental biologyEnzymechemistryBiochemistryrab GTP-Binding ProteinsMolecular MedicineRabHeLa CellsJournal of Medicinal Chemistry
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Molecular docking-based design and development of a highly selective probe substrate for UDP-glucuronosyltransferase 1A10

2018

Intestinal and hepatic glucuronidation by the UDP-glucuronosyltransferases (UGTs) greatly affect the bioavailability of phenolic compounds. UGT1A10 catalyzes glucuronidation reactions in the intestine, but not in the liver. Here, our aim was to develop selective, fluorescent substrates to easily elucidate UGT1A10 function. To this end, homology models were constructed and used to design new substrates, and subsequently, six novel C3-substituted (4-fluorophenyl, 4-hydroxyphenyl, 4-methoxyphenyl, 4-(dimethylamino)phenyl, 4-methylphenyl, or triazole) 7-hydroxycoumarin derivatives were synthesized from inexpensive starting materials. All tested compounds could be glucuronidated to nonfluorescen…

0301 basic medicineMutantGlucuronidationPharmaceutical ScienceUGT1A10030226 pharmacology & pharmacySubstrate Specificity7-hydroxycoumarin derivativechemistry.chemical_compound0302 clinical medicineDrug DiscoveryCRYSTAL-STRUCTUREGlucuronosyltransferaseta116ta317AFFINITYchemistry.chemical_classificationChemistry3. Good healthMolecular ImagingMolecular Docking Simulation7-hydroxycoumarin317 Pharmacyin silicoMolecular MedicinefluorescenceUDP-glucuronosyltransferaseEXPRESSIONENZYMEStereochemistryIn silicoKineticsFLUORESCENT-PROBETriazoleta311103 medical and health sciencesGlucuronidesMicrosomesXENOBIOTICSHumansUmbelliferonesFluorescent DyesGLUCURONIDATIONta1182glucuronidationfluoresenssiSubstrate (chemistry)drug metabolism030104 developmental biologyEnzymeDRUG-METABOLISMDrug DesignMolecular ProbesMutationMutagenesis Site-DirectedORAL BIOAVAILABILITYDrug metabolism
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Effects of the Genetic Depletion of Polysialyltransferases on the Structure and Connectivity of Interneurons in the Adult Prefrontal Cortex

2019

Polysialic acid (polySia) is a complex sugar that in the nervous system appears mainly as a posttranslational modification of the neural cell adhesion molecule (NCAM). PolySia plays important roles during brain development, but also in its plasticity during adulthood. Two polysialyltransferases (polyST), ST8SIA2 and ST8SIA4, are involved in the synthesis and attachment of polySia. Both polyST are relevant for developmental migration of cortical interneurons and their establishment in the prefrontal cortex (PFC). In contrast, only ST8SIA4 appears to be important for the structural plasticity of a subpopulation of cortical interneurons in the adult. Interestingly, ST8SIA2 and NCAM are candida…

0301 basic medicineNervous systemInterneuronNeuroscience (miscellaneous)Synaptogenesisinterneuronlcsh:RC321-571lcsh:QM1-695polysialic acid (polysia)03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineBasket cellpolysialyltransferasesmedicinePrefrontal cortexlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal Researchprefrontal cortexbiologyPolysialic acidmusculoskeletal neural and ocular physiologylcsh:Human anatomy030104 developmental biologymedicine.anatomical_structurenervous systembiology.proteinbasket cellNeural cell adhesion moleculeAnatomyNeurosciencedendritic arborization030217 neurology & neurosurgeryParvalbuminNeuroscienceFrontiers in Neuroanatomy
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Genetically elevated gamma-glutamyltransferase and Alzheimer's disease

2018

Observational epidemiological evidence supports a linear and independent association between serum gamma-glutamyltransferase (GGT) concentrations and the risk of Alzheimer's disease (AD). However, the causality of this association has not been previously investigated. We sought to assess the causal nature of this association using a Mendelian randomization (MR) approach. Using inverse-variance weighted MR analysis, we assessed the association between GGT and AD using summary statistics for single nucleotide polymorphism (SNP)-AD associations obtained from the International Genomics of Alzheimer's Project of 17,008 individuals with AD and 37,154 controls. We used 26 SNPs significantly associ…

0301 basic medicineOncologyAgingentsyymitDisease030204 cardiovascular system & hematologyAlzheimerin tautiBiochemistryGWAS genome-wide association studiestransferaasit0302 clinical medicineEndocrinologyEpidemiologyMedicineNHGRI National Human Genome Research InstituteGamma-glutamyltransferasebiologyMR Mendelian randomizationGenetic Pleiotropyta3142SNP single nucleotide polymorphismAlzheimer's disease3. Good healthEuropeAD Alzheimer's diseasegeneettiset tekijätmedicine.medical_specialtySingle-nucleotide polymorphismGRS genetic risk scoreta3111Polymorphism Single NucleotideArticle03 medical and health sciencesAlzheimer DiseaseInternal medicineMendelian randomizationGeneticsMendelian randomizationSNPHumansMolecular Biologybusiness.industryGGT gamma-glutamyltransferaseIGAP International Genomics of Alzheimer's ProjectGenetic VariationGamma-glutamyltransferaseCell BiologyOdds ratioMendelian Randomization AnalysisConfidence intervalCI confidence intervalOR odds ratio030104 developmental biologyCase-Control Studiesbiology.proteinbusinessSD standard deviationGenome-Wide Association StudyExperimental Gerontology
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The Role of Laboratory Tests in Crohn's Disease.

2016

In the past, laboratory tests were considered of limited value in Crohn's disease (CD). In the era of biologics, laboratory tests have become essential to evaluate the inflammatory burden of the disease (C-reactive protein, fecal calprotectin) since symptoms-based scores are subjective, to predict the response to pharmacological options and the risk of relapse, to discriminate CD from ulcerative colitis, to select candidates to anti-tumor necrosis factors [screening tests looking for hepatitis B virus and hepatitis C virus status and latent tuberculosis], to assess the risk of adverse events (testing for thiopurine metabolites and thiopurine-methyltransferase activity), and to personalize a…

0301 basic medicineOncologyCrohn’s diseasemedicine.medical_specialtyDiseaseReviewlaboratory testsBioinformaticsInflammatory bowel disease03 medical and health sciences0302 clinical medicineinflammatory bowel diseaseInternal medicinemedicinelcsh:RC799-869Crohn's diseaseLatent tuberculosisThiopurine methyltransferasebiologybusiness.industryGastroenterologymedicine.diseaseUlcerative colitis030104 developmental biologybiology.proteinlcsh:Diseases of the digestive system. Gastroenterology030211 gastroenterology & hepatologyCalprotectinbusinessPharmacogeneticsClinical medicine insights. Gastroenterology
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Usefulness of current candidate genetic markers to identify childhood cancer patients at risk for platinum-induced ototoxicity: Results of the Europe…

2020

Background Irreversible sensorineural hearing loss is a common side effect of platinum treatment with the potential to significantly impair the neurocognitive, social and educational development of childhood cancer survivors. Genetic association studies suggest a genetic predisposition for cisplatin-induced ototoxicity. Among other candidate genes, thiopurine methyltransferase (TPMT) is considered a critical gene for susceptibility to cisplatin-induced hearing loss in the FDA drug label and a pharmacogenetic guideline. The aim of this cross-sectional cohort study was to confirm the genetic associations in a large pan-European population and to evaluate the diagnostic accuracy of the genetic…

0301 basic medicineOncologyMaleCancer ResearchCandidate genePharmacogenomic VariantsCancer survivorsCHILDRENAnti-neoplastic drugsVARIANTSOCT2Carboplatin0302 clinical medicineHearingRisk FactorsNeoplasmsTPMTHearing / drug effectsProspective StudiesAge of OnsetChild610 Medicine & healthPREDICTORSmedia_commonHearing Loss Sensorineural / physiopathologyeducation.field_of_studyddc:618Thiopurine methyltransferasebiologycarboplatin [Cisplatin]Neoplasms / drug therapyOrganic Cation Transporter 2EuropeOncologyCisplatin: carboplatinCisplatin / adverse effects030220 oncology & carcinogenesisChild PreschoolOrganic Cation Transporter 2 / geneticsFemaleSENSITIVITYChildhood cancer360 Social problems & social servicesCohort studyDrug-induced ototoxicitymedicine.medical_specialtyINDUCED HEARING-LOSSAdolescentMulticenter cohort studyHearing Loss SensorineuralPopulationAdverse drug reactionAntineoplastic AgentsPolymorphism Single NucleotideRisk AssessmentHearing Loss Sensorineural / chemically inducedCarboplatin / adverse effects03 medical and health sciencesACYP2OtotoxicitySDG 3 - Good Health and Well-beingInternal medicinemedicineGenetic predispositionmedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseCISPLATIN-INDUCED OTOTOXICITYEuropean unioneducationGenetic Association StudiesGenetic associationRetrospective Studiesbusiness.industryAntineoplastic Agents / adverse effectsInfant NewbornInfantOdds ratioGuidelinemedicine.diseaseOtotoxicityCOMTPharmacogenomic Testing030104 developmental biologyCross-Sectional StudiesPharmacogeneticsbiology.proteinGenetic markersHearing Loss Sensorineural / geneticsCisplatinbusinessPharmacogenetics
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