Search results for "Element-Binding Protein"

showing 10 items of 42 documents

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia.

2015

Objective— Cyclic AMP responsive element–binding protein 3–like 3 ( CREB3L3 ) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. Approach and Results— The proband was a 49-year-old woman with high plasma triglycerides (≤1300 mg/dL; 14.68 mmol/L). Her father had a history of moderate hypertriglyceridemia, and her 51-year-old brother had triglycerides levels as high as 1600 mg/dL (18.06 mmol/L). To identify the causal mutation …

ProbandAdultMaleCandidate geneHeterozygoteSettore MED/09 - Medicina InternaHeredityAdolescentNonsense mutationDNA Mutational AnalysisPenetranceBiologymedicine.disease_causeSeverity of Illness IndexFrameshift mutationExonYoung AdultmedicineHumansGenetic Predisposition to DiseasetriglycerideCyclic AMP Response Element-Binding ProteinTriglyceridesAgedGeneticsAged 80 and overHypertriglyceridemiaMutationHypertriglyceridemiaMiddle Agedmedicine.diseasePenetrancePedigreePhenotypeCodon NonsenseFemalemutationCardiology and Cardiovascular MedicineBiomarkersArteriosclerosis, thrombosis, and vascular biology
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Mboat7 down-regulation by hyper-insulinemia induces fat accumulation in hepatocytes.

2020

Background: Naturally occurring variation in Membrane-bound O-acyltransferase domain-containing 7 (MBOAT7), encoding for an enzyme involved in phosphatidylinositol acyl-chain remodelling, has been associated with fatty liver and hepatic disorders. Here, we examined the relationship between hepatic Mboat7 down-regulation and fat accumulation. Methods: Hepatic MBOAT7 expression was surveyed in 119 obese individuals and in experimental models. MBOAT7 was acutely silenced by antisense oligonucleotides in C57Bl/6 mice, and by CRISPR/Cas9 in HepG2 hepatocytes. Findings: In obese individuals, hepatic MBOAT7 mRNA decreased from normal liver to steatohepatitis, independently of diabetes, inflammatio…

Research paperTGFβ Transforming Growth Factor BetaIntracellular SpaceCRISPR Clustered Regularly Interspaced Short Palindromic RepeatshHEPS Human HepatocytesMice0302 clinical medicineLPIAT1DAG Diacylglyceroli.p. Intraperitonealmedia_commonFatty AcidsGeneral Medicine3. Good health030220 oncology & carcinogenesisHOMA-IR homeostasis Model Assessment of Insulin ResistanceMPO morpholinolcsh:Medicine (General)medicine.medical_specialtyPE Phosphatidyl-EthanolamineNashGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesTNFα tumor Necrosis Factor AlphaLDL Low Density LipoproteinsHyperinsulinismNAFLDSD Standard Dietmedia_common.cataloged_instanceHumansCPT1 Carnitine Palmitoyltransferase IPhosphatidylinositolGene SilencingEuropean unionVLDL Very Low Density Lipoproteinlcsh:RhHSC Human Hepatic Stellate Cellsmedicine.diseaseLipid MetabolismOA Oleic AcidCI Confidence IntervalMboat7 Membrane bound O-acyltransferase domain containing 7MCD methionine choline deficient diet030104 developmental biologyEndocrinologychemistryCDP Cytidine-DiphosphateFOXO1 Forkhead Box protein O1NAFLD nonalcoholic fatty liver diseaseSteatohepatitisBMI Body Mass IndexCL CardiolipinAcyltransferases0301 basic medicineAlcoholic liver diseaseCXCL10 C-X-C Motif Chemokine 10lcsh:Medicinechemistry.chemical_compoundNon-alcoholic Fatty Liver DiseaseIFG Impaired Fasting GlucoseAPOB Apolipoprotein BNonalcoholic fatty liver diseasePIP Phosphatidyl-Inositol-PhosphateSteatohepatitisqRT-PCR quantitative Real Time Polymerase Chain ReactionMice Knockoutlcsh:R5-920ORO Oil Red O StainingPI PhosphatidylinositolFatty liverTM6SF2 Transmembrane 6 Superfamily Member 2PhospholipidTAG TriglyceridesNASH Nonalcoholic SteatohepatitisLipogenesisLPA Lyso-Phosphatidic AcidPhosphatidylinositolSignal TransductionPS Phosphatidyl-SerinePA Palmitic AcidALD alcoholic liver diseasePC Phosphatidylcholinei.v. IntravenousFATP1 Fatty Acid Transport Protein 1Models BiologicalInternal medicinemedicineAnimalsNonalcoholic fatty liver diseasePPARα Peroxisome Proliferator-Activated Receptor alphaObesityG3P Glyceraldehyde-3-PhosphateSREBP1c Sterol Regulatory Element-Binding Protein 1HDL High Density Lipoproteinsbusiness.industryPI3K Phosphatidylinositol 3 KinaseMembrane ProteinsNHEJ Non-Homologues End JoiningPNPLA3 Patatin-like Phospholipase Domain-containing-3MTTP Microsomal Triglyceride Transfer ProteinLPIAT1 Lysophosphatidylinositol Acyltransferase 1TMC4 Transmembrane Channel-Like 4Disease Models AnimalGene Expression RegulationHepatocytesFOXA2 Forkhead Box A2mTOR mammalian target of RapamycinSteatosisInsulin ResistancebusinessPG Phosphatidyl-GlycerolFABP1 Fatty Acid-Binding Protein 1 FAS Fatty Acid SynthaseT2DM Type 2 Diabetes MellitusEBioMedicine
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Cholesterol Starvation and Hypoxia Activate the FVII Gene via the SREBP1-GILZ Pathway in Ovarian Cancer Cells to Produce Procoagulant Microvesicles

2019

AbstractInteraction between the transcription factors, hypoxia-inducible factor (HIF1α and HIF2α) and Sp1, mediates hypoxia-driven expression of FVII gene encoding coagulation factor VII (fVII) in ovarian clear cell carcinoma (CCC) cells. This mechanism is synergistically enhanced in response to serum starvation, a condition possibly associated with tumor hypoxia. This transcriptional response potentially results in venous thromboembolism, a common complication in cancer patients by producing procoagulant extracellular vesicles (EVs). However, which deficient serum factors are responsible for this characteristic transcriptional mechanism is unknown. Here, we report that cholesterol deficien…

Serum0301 basic medicineLeucine zipper030204 cardiovascular system & hematologyMice03 medical and health sciences0302 clinical medicineCell-Derived MicroparticlesCell Line Tumorhemic and lymphatic diseasesAnimalsHumansHypoxiaTranscription factorOvarian NeoplasmsTumor hypoxiaCoagulantsChemistryHematologyFactor VIIChromatin Assembly and DisassemblyHypoxia-Inducible Factor 1 alpha SubunitXenograft Model Antitumor AssaysMicrovesiclesChromatinCell biologySterol regulatory element-binding proteinCholesterol030104 developmental biologyFemaleSignal transductionSterol Regulatory Element Binding Protein 1Chromatin immunoprecipitationSignal TransductionTranscription FactorsThrombosis and Haemostasis
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Transcriptional activation of apurinic/apyrimidinic endonuclease (Ape, Ref-1) by oxidative stress requires CREB.

1999

Abstract Apurinic/apyrimidinic endonuclease (APE alias Ref-1) is a multifunctional enzyme involved in DNA repair and redox regulation of transcription factors (e.g., AP-1). It also acts as a repressor of its own and other genes. Recently, it was shown that the level of APE mRNA and protein is enhanced upon treatment of cells with oxidative agents, such as hydrogen peroxide (H 2 O 2 ), which gives rise to an adaptive response of cells to oxidative stress. Induction of APE is due to APE promoter activation. To elucidate the mechanism of transcriptional activation of APE by oxidative agents, we introduced mutations into the cloned human APE promoter and checked its activity in transient transf…

Transcription GeneticDNA repairProto-Oncogene Proteins c-junvirusesCarbon-Oxygen LyasesBiophysicsRepressorContext (language use)CHO CellsCREBTransfectionBiochemistryPolymerase Chain ReactionEndonucleasestomatognathic systemCricetinaeDNA-(Apurinic or Apyrimidinic Site) LyaseAnimalsHumansAP siteBinding siteCyclic AMP Response Element-Binding ProteinPromoter Regions GeneticMolecular BiologyTranscription factorBinding SitesbiologyActivating Transcription Factor 2social sciencesCell BiologyHydrogen PeroxideOxidantsMolecular biologybody regionsOxidative Stressbiology.proteinMutagenesis Site-DirectedTranscription FactorsBiochemical and biophysical research communications
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Urokinase activates macrophage PON2 gene transcription via the PI3K/ROS/MEK/SREBP-2 signalling cascade mediated by the PDGFR-β

2009

Aims We have recently shown that urokinase plasminogen activator (uPA) increases oxidative stress (OS), cholesterol biosynthesis, and paraoxonase 2 (PON2) expression in macrophages via binding to its receptor, the uPAR. Since PON2 is regulated by both OS and cholesterol content, we hypothesized that uPA elicits a cascade of signal transduction events shared by NADPH oxidase and cholesterol biosynthesis that culminates in PON2 gene expression. Here, we investigated the signalling pathway that leads to the expression of PON2 in macrophages in response to uPA. Methods and results The increase in macrophage PON2 mRNA levels in response to uPA was shown to depend on PON2 gene promoter activation…

Transcription GeneticPhysiologyReceptor Platelet-Derived Growth Factor betaPhosphatidylinositol 3-KinasesPhysiology (medical)Gene expressionHumansExtracellular Signal-Regulated MAP KinasesTranscription factorCells CulturedMitogen-Activated Protein Kinase KinasesRegulation of gene expressionNADPH oxidasebiologyAryldialkylphosphataseKinaseMacrophagesNADPH OxidasesUrokinase-Type Plasminogen ActivatorCell biologySterol regulatory element-binding proteinUrokinase receptorGene Expression RegulationBiochemistryTissue Plasminogen Activatorbiology.proteinSignal transductionReactive Oxygen SpeciesCardiology and Cardiovascular MedicineSignal TransductionSterol Regulatory Element Binding Protein 2Cardiovascular Research
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mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex

2021

AbstractDysregulated mammalian target of rapamycin (mTOR) activity is associated with various neurodevelopmental disorders ranging from idiopathic autism spectrum disorders to syndromes caused by single gene defects. This suggests that maintaining mTOR activity levels in a physiological range is essential for brain development and functioning. Upon activation, mTOR regulates a variety of cellular processes such as cell growth, autophagy and metabolism. On a molecular level, however, the consequences of mTOR activation in the brain are not well understood.Low levels of cholesterol are associated with a wide variety of neurodevelopmental disorders. We here describe numerous genes of the stero…

Transcription GeneticQH301-705.5Primary Cell CulturemTORC1Mechanistic Target of Rapamycin Complex 1BiologySREBPCatalysisArticleInorganic ChemistryMiceAutophagyTranscriptional regulationmedicineAnimalsPhysical and Theoretical ChemistryBiology (General)Molecular BiologyTranscription factorQD1-999mTORC1SpectroscopyPI3K/AKT/mTOR pathwayCerebral CortexNeuronsSterol Regulatory Element Binding ProteinsCell growthTOR Serine-Threonine KinasesOrganic Chemistrycholesterol ; NF-Y ; neurogenesis ; mTOR ; mTORC1 ; SP1 ; SREBPAutophagyGene Expression Regulation DevelopmentalcholesterolGeneral MedicineComputer Science ApplicationsSterol regulatory element-binding proteinCell biologySP1Chemistryneurogenesismedicine.anatomical_structureCCAAT-Binding FactorCerebral cortexmTORNF-YProtein KinasesSignal TransductionInternational Journal of Molecular Sciences
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A differential role of CREB phosphorylation in cAMP-inducible gene expression in the rat pineal

2000

In the rat pineal gland cAMP mediates nocturnal induction of the enzyme arylalkylamine N-acetyltransferase (AA-NAT) as well as of transcription factors such as inducible cAMP early repressor (ICER), Fos-related antigen-2 (Fra-2) and JunB. Cyclic AMP stimulates the phosphorylation of the DNA binding protein cAMP response element binding protein (CREB). While cAMP-induced CREB phosphorylation appears to be a prerequisite for AA-NAT and ICER gene expression, it is not known whether CREB phosphorylation accounts for the full cAMP response of the two genes. Furthermore, the significance of CREB phosphorylation in cAMP-activated Fra-2 and JunB transcription is unknown. In the present in vitro stu…

Transcriptional Activationendocrine systemCAMP-Responsive Element ModulatorArylamine N-AcetyltransferaseProto-Oncogene Proteins c-junJUNBBlotting WesternNerve Tissue ProteinsFos-Related Antigen-2CREBPineal GlandGene Expression Regulation EnzymologicCyclic AMP Response Element ModulatorRats Sprague-DawleyOkadaic AcidGene expressionAnimalsRNA MessengerEnzyme InhibitorsPhosphorylationCyclic AMP Response Element-Binding ProteineducationMolecular BiologyTranscription factorRegulation of gene expressioneducation.field_of_studybiologyReverse Transcriptase Polymerase Chain ReactionGeneral NeuroscienceMolecular biologyRatsDNA-Binding ProteinsRepressor ProteinsBucladesinebiology.proteinPhosphorylationNeurology (clinical)CREB1Proto-Oncogene Proteins c-fosSignal TransductionTranscription FactorsDevelopmental BiologyBrain Research
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Acidic Environment Leads to ROS-Induced MAPK Signaling in Cancer Cells

2011

Tumor micromilieu often shows pronounced acidosis forcing cells to adapt their phenotype towards enhanced tumorigenesis induced by altered cellular signalling and transcriptional regulation. In the presents study mechanisms and potential consequences of the crosstalk between extra- and intracellular pH (pH(e), pH(i)) and mitogen-activated-protein-kinases (ERK1/2, p38) was analyzed. Data were obtained mainly in AT1 R-3327 prostate carcinoma cells, but the principle importance was confirmed in 5 other cell types. Extracellular acidosis leads to a rapid and sustained decrease of pH(i) in parallel to p38 phosphorylation in all cell types and to ERK1/2 phosphorylation in 3 of 6 cell types. Furth…

Tumor PhysiologyIntracellular Spacelcsh:MedicineSignal transductionERK signaling cascadeMolecular cell biologyNeoplasmsBasic Cancer ResearchTumor MicroenvironmentSignaling in Cellular ProcessesPhosphorylationCyclic AMP Response Element-Binding ProteinCreb Signalinglcsh:ScienceCellular Stress ResponsesMultidisciplinaryKinaseMechanisms of Signal TransductionSignaling cascadesHydrogen-Ion ConcentrationProtein-Tyrosine KinasesCell biologyOncologyMedicinePhosphorylationMitogen-Activated Protein KinasesSodium-Potassium-Exchanging ATPaseIntracellularResearch ArticleCell SurvivalMAP Kinase Signaling Systemp38 mitogen-activated protein kinasesIntracellular pHBiologyCREBModels BiologicalCell GrowthDogsCell Line TumorAnimalsHumansProtein Kinase InhibitorsBiologyPI3K/AKT/mTOR pathwaylcsh:RRatsEnzyme ActivationCancer cellbiology.proteinlcsh:QExtracellular SpaceReactive Oxygen SpeciesAcidsPLoS ONE
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Regulation of Farnesyl Diphosphate Synthase Gene Expression by Fatty Acids

2003

Cholesterol biosynthesis depends on the activity of regulatory enzymes, including the peroxisomal Farnesyl Diphosphate Synthase (FPPS ). Cholesterol regulates its own synthesis rate. Hence, as a response to cholesterol depletion, a feed back mechanism is activated, whereby sterol regulatory binding proteins (SREBPla, 1c and 2 ) are subjected to sequential proteolytic activation, which permits their interaction with specific DNA response elements from responsive genes. In turn, the transcriptional activity of cholesterol biosynthesis genes is induced. Conversely, cholesterol accumulation decreases SREBP maturation and transcription of controlled genes. In addition, polyunsaturated fatty acid…

chemistry.chemical_classificationbiologyCholesterolPeroxisomeSterolSterol regulatory element-binding proteinchemistry.chemical_compoundFarnesyl diphosphate synthasechemistryBiochemistryLipogenesisbiology.proteinlipids (amino acids peptides and proteins)GenePolyunsaturated fatty acid
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Plant sterols from foods in inflammation and risk of cardiovascular disease: a real threat?

2014

High dietary intakes of cholesterol together with sedentary habits have been identified as major contributors to atherosclerosis. The latter has long been considered a cholesterol storage disease; however, today atherosclerosis is considered a more complex disease in which both innate and adaptive immune-inflammatory mechanisms as well as bacteria play a major role, in addition to interactions between the arterial wall and blood components. This scenario has promoted nutritional recommendations to enrich different type of foods with plant sterols (PS) because of their cholesterol-lowering effects. In addition to cholesterol, PS can also be oxidized during food processing or storage, and the…

medicine.medical_specialtyFood HandlingBiological AvailabilityInflammationDiseaseToxicologyBioinformaticschemistry.chemical_compoundRisk FactorsInternal medicinemedicineHumansLiver X receptorInflammationCholesterolPhytosterolPhytosterolsGeneral MedicineAtherosclerosisSterolSterol regulatory element-binding proteinEndocrinologyCholesterolchemistryCardiovascular DiseasesFoodmedicine.symptomCholesterol storageFood ScienceFood and chemical toxicology : an international journal published for the British Industrial Biological Research Association
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