Search results for "Transferases"

showing 10 items of 426 documents

Combined effects of the PNPLA3 rs738409, TM6SF2 rs58542926, and MBOAT7 rs641738 variants on NAFLD severity: a multicenter biopsy-based study.

2016

The PNPLA3 p.I148M, TM6SF2 p.E167K, and MBOAT7 rs641738 variants represent genetic risk factors for nonalcoholic fatty liver disease (NAFLD). Here we investigate if these polymorphisms modulate both steatosis and fibrosis in patients with NAFLD. We recruited 515 patients with NAFLD (age 16–88 years, 280 female patients). Liver biopsies were performed in 320 patients. PCR-based assays were used to genotype the PNPLA3, TM6SF2, and MBOAT7 variants. Carriers of the PNPLA3 and TM6SF2 risk alleles showed increased serum aspartate aminotransferase and alanine transaminase activities (P 0.05). The MBOAT7 variant was solely associated with increased fibrosis (P = 0.046). In the multivariate model, v…

0301 basic medicineMalePathologyBiopsyBiochemistryGastroenterologySeverity of Illness Index0302 clinical medicineEndocrinologyFibrosisNon-alcoholic Fatty Liver DiseaseGenotypeNonalcoholic fatty liver diseaseAged 80 and overeducation.field_of_studybiologyFatty liverMiddle AgedLiver030211 gastroenterology & hepatologyFemaleAdultmedicine.medical_specialtyAdolescentGenotypePolymorphism Single Nucleotide03 medical and health sciencesYoung AdultInternal medicinemedicineHumansAdiponutrinGenetic Predisposition to DiseaseeducationAllelesGenetic Association StudiesAgedbusiness.industryMembrane ProteinsCell BiologyLipasemedicine.diseaseFibrosisFatty Liver030104 developmental biologyAlanine transaminasebiology.proteinSteatosisbusinessPatient-Oriented and Epidemiological ResearchAcyltransferasesTM6SF2Journal of lipid research
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Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting…

2017

This study provides first insights into the biosynthesis, structure, biochemistry and complex processing of the proteins encoded by hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID (NOT) and the yeast asparagine linked glycosylation 3 gene (ALG3), which encodes a mannosyltransferase. Unambiguous evidence that both the fly and human proteins act as mannosyltransferases has not been provided yet. Previously, we showed that hNOT/ALG3 encodes two alternatively spliced main transcripts, hNOT-1/ALG3-1 and hNOT-4/ALG3-4, and their 15 truncated derivatives that lack diverse sets of exons and/or carry point mutations that result in premature termination codons. Here we show that t…

0301 basic medicineMannosyltransferaseGlycosylationSaccharomyces cerevisiae ProteinsGlycosylationProtein ConformationRNA SplicingSaccharomyces cerevisiaeBiologyMannosyltransferases03 medical and health scienceschemistry.chemical_compoundExonNuclear Receptor Subfamily 4 Group A Member 2GeneticsAnimalsHumansAmino Acid SequenceAsparagineMolecular BiologyGeneGenetics (clinical)Cellular compartmentPoint mutationComputational BiologyMembrane ProteinsExonsGeneral MedicineCell biologyAlternative Splicing030104 developmental biologychemistryCodon NonsenseDrosophilaCytokinesisHuman Molecular Genetics
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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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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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Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.

2018

Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate controversies over its molecular background. The P1PK system comprises three glycosphingolipid antigens: Pk, P1 and NOR, all synthesised by a glycosyltransferase called Gb3/CD77 synthase. The Pk antigen is present in most individuals, whereas P1 frequency is lesser and varies regionally, thus underlying two common phenotypes: P1, if the P1 antigen is present, and P2, when P1 is absent. Null and NOR phenotypes are extremely rare. To date, several single nucleotide polymorphisms (SNPs) have been proposed to predict the P1/P2 status, but it has not been clear how important they are in general and in relation …

0301 basic medicinePhysiologyCell Membraneslcsh:MedicineArtificial Gene Amplification and ExtensionBiochemistryPolymerase Chain Reactionchemistry.chemical_compoundSpectrum Analysis TechniquesTranscription (biology)GenotypeMedicine and Health Scienceslcsh:ScienceGeneticsMultidisciplinaryGlobosidesHomozygoteGlycosphingolipidFlow CytometryGalactosyltransferasesPhenotypeLipidsBody FluidsElectrophysiologyCholesterolBloodPhenotypeSpectrophotometryBlood Group AntigensCytophotometryAnatomyCellular Structures and OrganellesResearch ArticleGenotypeSingle-nucleotide polymorphismBiologyResearch and Analysis MethodsReal-Time Polymerase Chain ReactionMembrane PotentialPolymorphism Single NucleotideAntibodiesGlycosphingolipids03 medical and health sciencesAntigenGlycosyltransferaseHumansMolecular Biology TechniquesMolecular BiologyBlood typeSphingolipidslcsh:RBiology and Life SciencesCell Biology030104 developmental biologychemistrybiology.proteinlcsh:QBlood GroupsPLoS ONE
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Resveratrol shifts energy metabolism to increase lipid oxidation in healthy old mice.

2019

Abstract Objectives The objective of this work was to determine the specific mechanisms by which resveratrol inhibits lipogenesis and stimulates lipolysis. Methods Twelve male mice were individually introduced into a metabolic cage for 24 h to measure basal metabolic rate, prior to intervention. They were randomly divided into two groups, resveratrol (RSV) and control (C), and administered resveratrol intraperitoneally or vehicle, respectively, for two consecutive days. After 24 h, the metabolic energy expenditure was again determined for 24 h, before mice were sacrificed. Protein and gene expression of different enzymes related to metabolism in the hepatic tissue, adipose tissue and gastro…

0301 basic medicinePolyphenolMalemedicine.medical_specialtyAgingLipolysisAdipose tissueWhite adipose tissueRM1-950ResveratrolLipid catabolism03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineInternal medicinemedicineAnimalsCarnitineBeta oxidationFatty acid synthesisRespiratory quotientPharmacologyLipogenesisFatty AcidsGeneral MedicineMice Inbred C57BL030104 developmental biologyEndocrinologyMalonyl-CoAchemistryAdipose TissueCarnitine AcyltransferasesLiverResveratrol030220 oncology & carcinogenesisLipogenesisTherapeutics. PharmacologyEnergy MetabolismOxidation-Reductionmedicine.drugAcetyl-CoA CarboxylaseBiomedicinepharmacotherapy = Biomedecinepharmacotherapie
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The RNA methyltransferase Dnmt2 methylates DNA in the structural context of a tRNA

2016

The amino acid sequence of Dnmt2 is very similar to the catalytic domains of bacterial and eukaryotic DNA-(cytosine 5)-methyltransferases, but it efficiently catalyzes tRNA methylation, while its DNA methyltransferase activity is the subject of controversial reports with rates varying between zero and very weak. By using composite nucleic acid molecules as substrates, we surprisingly found that DNA fragments, when presented as covalent DNA-RNA hybrids in the structural context of a tRNA, can be more efficiently methylated than the corresponding natural tRNA substrate. Furthermore, by stepwise development of tRNAAsp, we showed that this natural Dnmt2 substrate could be engineered to employ R…

0301 basic medicineRNA methylationBiologyMethylationCytosineMiceStructure-Activity Relationship03 medical and health scienceschemistry.chemical_compoundRNA Transferenzyme kineticsAnimalsHumansDNA (Cytosine-5-)-MethyltransferasesGuide RNA5-methylcytosinetRNAMolecular Biologymodification pathway crosstalkTRNA methylationRNADNACell BiologyMethylationDNA MethylationRNA modification5-Methylcytosine030104 developmental biologyBiochemistrychemistryTransfer RNARNA methylationNucleic Acid ConformationDnmt2DNAResearch Paper
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Statistically robust methylation calling for whole-transcriptome bisulfite sequencing reveals distinct methylation patterns for mouse RNAs

2017

AbstractCytosine-5 RNA methylation plays an important role in several biologically and pathologically relevant processes. However, owing to methodological limitations, the transcriptome-wide distribution of this mark has remained largely unknown. We previously established RNA bisulfite sequencing as a method for the analysis of RNA cytosine-5 methylation patterns at single-base resolution. More recently, next-generation sequencing has provided opportunities to establish transcriptome-wide maps of this modification. Here we present a computational approach that integrates tailored filtering and data-driven statistical modeling to eliminate many of the artifacts that are known to be associate…

0301 basic medicineRNA methylationBisulfite sequencingMethodComputational biologyBiologyTranscriptome03 medical and health sciencesMiceRNA modificationsRNA TransferRNA Ribosomal 28SGeneticsm5CAnimalsHumansRNA MessengerRNA Processing Post-TranscriptionalRNA-Directed DNA MethylationBisulfite sequencingGenetics (clinical)GeneticsHigh-Throughput Nucleotide SequencingRNAMethyltransferasesMethylationRibosomal RNADNA Methylation030104 developmental biologyTransfer RNADNA methylationIllumina Methylation AssayTranscriptome
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Mechanism and biological role of Dnmt2 in Nucleic Acid Methylation

2016

ABSTRACT A group of homologous nucleic acid modification enzymes called Dnmt2, Trdmt1, Pmt1, DnmA, and Ehmet in different model organisms catalyze the transfer of a methyl group from the cofactor S-adenosyl-methionine (SAM) to the carbon-5 of cytosine residues. Originally considered as DNA MTases, these enzymes were shown to be tRNA methyltransferases about a decade ago. Between the presumed involvement in DNA modification-related epigenetics, and the recent foray into the RNA modification field, significant progress has characterized Dnmt2-related research. Here, we review this progress in its diverse facets including molecular evolution, structural biology, biochemistry, chemical biology,…

0301 basic medicineRetroelementsRNA methylationChemical biologyReviewBiologyMethylationCatalysisEpigenesis GeneticSubstrate Specificity03 medical and health scienceschemistry.chemical_compoundStructure-Activity RelationshipNucleic AcidsAnimalsHumansEpigeneticsDNA (Cytosine-5-)-MethyltransferasesGene SilencingMolecular BiologytRNAPhylogenyGeneticsNucleic acid methylationDNA methylationBinding SitesepigeneticsCell BiologyTRNA Methyltransferasesmethylcytidine030104 developmental biologyCell Transformation NeoplasticBiochemistrychemistryStructural biologyGene Expression RegulationNucleic acidRNA methylationDNAProtein BindingRNA Biology
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The SCO1731 methyltransferase modulates actinorhodin production and morphological differentiation of Streptomyces coelicolor A3(2)

2018

AbstractStreptomyces coelicolor is a Gram-positive microorganism often used as a model of physiological and morphological differentiation in streptomycetes, prolific producers of secondary metabolites with important biological activities. In the present study, we analysed Streptomyces coelicolor growth and differentiation in the presence of the hypo-methylating agent 5′-aza-2′-deoxycytidine (5-aza-dC) in order to investigate whether cytosine methylation has a role in differentiation. We found that cytosine demethylation caused a delay in spore germination, aerial mycelium development, sporulation, as well as a massive impairment of actinorhodin production. Thus, we searched for putative DNA…

0301 basic medicineScienceMutantAnthraquinonesStreptomyces coelicolorDecitabineSettore BIO/19 - Microbiologia GeneraleDNA methyltransferaseArticleActinorhodin03 medical and health scienceschemistry.chemical_compoundBacterial ProteinsSpore germinationSpores BacterialRegulation of gene expressionMultidisciplinaryMyceliumbiologyStreptomyces coelicolorfungiQRActinorhodin ProductionCell DifferentiationGene Expression Regulation BacterialMethyltransferasesbiology.organism_classificationTn5 Mutant Strains030104 developmental biologychemistryBiochemistryHypomethylating AgentsStreptomyces coelicolor bacterial differentiation epigenetic cytosine methylationDNA methylationMedicineCytosineCytosine Methylation
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