Search results for "PHOSPHATE"

showing 10 items of 1874 documents

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017

Item does not contain fulltext Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequ…

Male0301 basic medicineCandidate genemedicine.medical_specialtymedical geneticsglycosylationNonsense mutationGenome-wide association studyGene mutationBiologySensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Articlesevere intellectual disability03 medical and health sciencesEpilepsy0302 clinical medicinechildrenRecurrenceSeizuresGenetic linkageIntellectual Disability[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyJournal ArticleGeneticsmedicineHumansChilddisordersGenetics (clinical)Genetic associationGeneticsBrain DiseasesdiseaseEpilepsycis-prenyltransferaseGenome Humanstructural basismedicine.diseasediphosphate synthase030104 developmental biologyChild PreschoolMutationMedical geneticsFemalenogo-b receptor030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association StudyMeta-Analysis
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Influence of Dimerization of Apocynin on Its Effects in Experimental Colitis

2017

Apocynin has been widely used as an inhibitor of the nicotinamide adenine dinucleotide phosphate oxidase (NADPH-oxidase) system and shows promise as an anti-inflammatory drug. Diapocynin, the dimeric product generated by the oxidation of apocynin in the presence of myeloperoxidase (MPO), is supposed to be its active form. In this study, diapocynin has been chemically synthesized and its activity on several inflammatory mediators in LPS-stimulated RAW 264.7 macrophages and its anti-inflammatory effect on ulcerative colitis induced by dextran sodium sulfate (DSS) in mice analyzed. We found that diapocynin showed higher inhibitory activity than apocynin. The dimer reduced ROS production, TNF-α…

Male0301 basic medicineDimerInterleukin-1betaPharmacologyInhibitory postsynaptic potentialMice03 medical and health scienceschemistry.chemical_compoundIn vivoAnimalsHumansMice Inbred BALB COxidase testMolecular StructurebiologyInterleukin-6Tumor Necrosis Factor-alphaMacrophagesBiphenyl CompoundsNF-kappa BAcetophenonesGeneral ChemistryColitis030104 developmental biologychemistryDiapocyninBiochemistryCyclooxygenase 2MyeloperoxidaseApocyninbiology.proteinGeneral Agricultural and Biological SciencesDimerizationNicotinamide adenine dinucleotide phosphateJournal of Agricultural and Food Chemistry
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The LepR-mediated leptin transport across brain barriers controls food reward

2018

Objective Leptin is a key hormone in the control of appetite and body weight. Predominantly produced by white adipose tissue, it acts on the brain to inhibit homeostatic feeding and food reward. Leptin has free access to circumventricular organs, such as the median eminence, but entry into other brain centers is restricted by the blood–brain and blood–CSF barriers. So far, it is unknown for which of its central effects leptin has to penetrate brain barriers. In addition, the mechanisms mediating the transport across barriers are unclear although high expression in brain barriers suggests an important role of the leptin receptor (LepR). Methods We selectively deleted LepR in brain endothelia…

Male0301 basic medicineLeptinHFD high-fat dietEndothelial cellsWhite adipose tissueCSF cerebrospinal fluidMice0302 clinical medicineCPP conditioned place preferenceBBB blood–brain barrierCells Culturedmedia_commonLeptindigestive oral and skin physiologyi.p. intraperitonealmedicine.anatomical_structureLepRBlood-Brain BarrierBlood–brain barrier; Endothelial cells; LepR; Leptin; Obesity; RewardMedian eminenceqPCR quantitative polymerase chain reactionReceptors LeptinOriginal ArticleChoroid plexusmedicine.medical_specialtylcsh:Internal medicinemedia_common.quotation_subjectHyperphagiaBiologyBlood–brain barrierVTA ventral tegmental areaBC bottle choice testCapillary PermeabilityBlood–brain barrierARC arcuate nucleus03 medical and health sciencesPBS phosphate buffered salineRewardInternal medicinemedicineAnimalsObesitylcsh:RC31-1245Molecular BiologyCircumventricular organsBlood-Nerve BarrierLeptin receptorNCD normal chow dietAppetiteCell Biology030104 developmental biologyEndocrinologyLepR leptin receptorChoroid PlexusBSA bovine serum albuminPFA paraformaldehyde030217 neurology & neurosurgeryDAPI 4′6-diamidino-2-phenylindoleMolecular Metabolism
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Molecular mechanisms mediating the neuroprotective role of the selective estrogen receptor modulator, bazedoxifene, in acute ischemic stroke: A compa…

2017

As the knowledge on the estrogenic system in the brain grows, the possibilities to modulate it in order to afford further neuroprotection in brain damaging disorders so do it. We have previously demonstrated the ability of the selective estrogen receptor modulator, bazedoxifene (BZA), to reduce experimental ischemic brain damage. The present study has been designed to gain insight into the molecular mechanisms involved in such a neuroprotective action by investigating: 1) stroke-induced apoptotic cell death; 2) expression of estrogen receptors (ER) ERα, ERβ and the G-protein coupled estrogen receptor (GPER); and 3) modulation of MAPK/ ERK1/2 and PI3K/Akt signaling pathways. For comparison, …

Male0301 basic medicineMAPK/ERK pathwayIndolesSignaling pathwaysEndocrinology Diabetes and MetabolismClinical BiochemistryEstrogen receptorApoptosisEstrogen receptorsSecond Messenger SystemsBiochemistryBrain IschemiaReceptors G-Protein-Coupled0302 clinical medicineEndocrinologyPhosphatidylinositol PhosphatesCerebral CortexNeuronsEstradiolNeuroprotectionStrokeNeuroprotective AgentsSelective estrogen receptor modulatorReperfusion InjuryMolecular MedicineSelective estrogen receptor modulatorsGPERmedicine.medical_specialtyMAP Kinase Signaling Systemmedicine.drug_classAcute ischemic strokeNerve Tissue ProteinsBazedoxifeneBiologyNeuroprotection03 medical and health sciencesInternal medicinemedicineAnimalsEstrogen Receptor betaRats WistarMolecular BiologyProtein kinase BPI3K/AKT/mTOR pathwayEstrogen Receptor alphaEstrogensCell BiologyEstrogen030104 developmental biologyEndocrinologyEstrogen030217 neurology & neurosurgeryThe Journal of Steroid Biochemistry and Molecular Biology
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Pyridoxine dependent epilepsies: new therapeutical point of view

2017

Abstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) a…

Male0301 basic medicineNew therapeutical approachTreatment outcomePNPOBioinformaticsSeverity of Illness IndexEpilepsy0302 clinical medicineLetter to the EditorAnticonvulsant drugsDrugs-resistant seizuresBrain Diseases MetabolicIncidencelcsh:RJ1-570PyridoxineElectroencephalographyPyridoxine dependent epilepsiesPrognosisPyridoxaminephosphate OxidaseTreatment OutcomeChild PreschoolHypoxia-Ischemia BrainConventional anticonvulsant drugAnticonvulsantsFemalemedicine.drugmedicine.medical_specialtyLate onsetRisk Assessment03 medical and health sciencesDrugs-resistant seizureSeizuresInternal medicinePyridoxine administrationmedicineHumansGenetic Predisposition to DiseaseGeneEpilepsyPyridoxaminephosphate Oxidasebusiness.industryInfantlcsh:PediatricsPyridoxinemedicine.disease030104 developmental biologyEndocrinologyConventional anticonvulsant drugsbusiness030217 neurology & neurosurgeryItalian Journal of Pediatrics
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The desert gerbil Psammomys obesus as a model for metformin-sensitive nutritional type 2 diabetes to protect hepatocellular metabolic damage: Impact …

2017

Introduction While metformin (MET) is the most widely prescribed antidiabetic drug worldwide, its beneficial effects in Psammomys obesus (P. obesus), a rodent model that mimics most of the metabolic features of human diabetes, have not been explored thoroughly. Here, we sought to investigate whether MET might improve insulin sensitivity, glucose homeostasis, lipid profile as well as cellular redox and energy balance in P. obesus maintained on a high energy diet (HED). Materials and methods P. obesus gerbils were randomly assigned to receive either a natural diet (ND) consisting of halophytic plants (control group) or a HED (diabetic group) for a period of 24 weeks. MET (50 mg/kg per os) was…

Male0301 basic medicinePhysiologymedicine.medical_treatment[SDV]Life Sciences [q-bio]Body-WeightRespiratory chainlcsh:MedicineMitochondria LiverBiochemistrychemistry.chemical_compoundLiver Parenchymal-CellsEndocrinologyGlucose MetabolismAnimal CellsKetogenesisMedicine and Health SciencesElectrochemistryGlucose homeostasisGut Microbiotalcsh:ScienceEnergy-Producing OrganellesComputingMilieux_MISCELLANEOUS2. Zero hungerMultidisciplinaryOrganic CompoundsMonosaccharidesFatty AcidsChemical ReactionsLipidsMetforminMitochondria3. Good healthChemistryPhysiological ParametersLiverPhysical SciencesCarbohydrate MetabolismCellular Structures and OrganellesCellular TypesAnatomyOxidation-ReductionResearch Articlemedicine.medical_specialtyIsolated Rat HepatocytesEndocrine DisordersCarbohydratesBioenergeticsBiologyCarbohydrate metabolism03 medical and health sciencesInsulin resistanceInternal medicineFood-IntakeDiabetes MellitusmedicineAnimalsHypoglycemic AgentsObesityRespiratory-Chain[ SDV ] Life Sciences [q-bio]Fatty acid metabolismInsulinBody WeightOrganic Chemistrylcsh:RChemical CompoundsGluconeogenesisBiology and Life SciencesCell Biologymedicine.diseaseGlucose-6-Phosphate HydrolysisDisease Models AnimalGlucoseMetabolism030104 developmental biologyEndocrinologyDiabetes Mellitus Type 2GluconeogenesischemistryMetabolic DisordersHepatocyteslcsh:QInsulin ResistanceGerbillinaeGlucose-ProductionFatty-Acid-MetabolismOxidation-Reduction Reactions
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Astrocytic Calcium Waves Signal Brain Injury to Neural Stem and Progenitor Cells

2017

Summary Brain injuries, such as stroke or trauma, induce neural stem cells in the subventricular zone (SVZ) to a neurogenic response. Very little is known about the molecular cues that signal tissue damage, even over large distances, to the SVZ. Based on our analysis of gene expression patterns in the SVZ, 48 hr after an ischemic lesion caused by middle cerebral artery occlusion, we hypothesized that the presence of an injury might be transmitted by an astrocytic traveling calcium wave rather than by diffusible factors or hypoxia. Using a newly established in vitro system we show that calcium waves induced in an astrocytic monolayer spread to neural stem and progenitor cells and increase th…

Male0301 basic medicineTime FactorsNotch signaling pathwaySubventricular zonechemistry.chemical_elementBiologyCalciumcalcium signalingBiochemistryArticleMice03 medical and health sciencesAdenosine TriphosphateNeural Stem CellsDownregulation and upregulationCell MovementGeneticsmedicineAnimalsCell Self RenewalProgenitor celllcsh:QH301-705.5Cells CulturedCalcium signalinglcsh:R5-920Gene Expression ProfilingastrocytesGap JunctionsCell DifferentiationCell BiologyAnatomyHypoxia (medical)strokeNeural stem cellDisease Models Animal030104 developmental biologymedicine.anatomical_structurelcsh:Biology (General)chemistryBrain InjuriesCalciummedicine.symptomFunction and Dysfunction of the Nervous Systemlcsh:Medicine (General)TranscriptomeNeurosciencenotchDevelopmental BiologyStem Cell Reports
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Kinetic modelling of the intestinal transport of sarafloxacin. Studiesin situin rat andin vitroin Caco-2 cells

2005

The absorption kinetics of sarafloxacin, as a model of fluoroquinolone structure, were studied in the rat small intestine and in Caco-2 cells. The objective of the study was to investigate the mechanistic basis of the drug's intestinal transport in comparison with other members of the fluoroquinolone family and to apply a mathematical modelling approach to the transport process. In the rat small intestine, sarafloxacin showed dual mechanisms of intestinal absorption with a passive diffusional component and an absorptive carrier-mediated component. The characteristics of the animal study design made it suitable for population analysis, thus allowing the accurate estimation of transport param…

MaleAbsorption (pharmacology)Chemical PhenomenaAntimetabolitesPopulationPharmaceutical ScienceOxidative PhosphorylationIntestinal absorptionDiffusionchemistry.chemical_compoundAdenosine TriphosphateSarafloxacinAnti-Infective AgentsCiprofloxacinAnimalsHumansIntestinal MucosaRats WistarSodium AzideeducationAntibacterial agenteducation.field_of_studyModels StatisticalChemistry PhysicalBiological TransportLipidsRatsIntestinal AbsorptionchemistryBiochemistryPermeability (electromagnetism)BiophysicsSodium azideEffluxCaco-2 CellsEnergy MetabolismAlgorithmsFluoroquinolonesJournal of Drug Targeting
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Nitric oxide modulates striatal neuronal activity via soluble guanylyl cyclase: an in vivo microiontophoretic study in rats.

2003

It is now well established that nitric oxide (NO) acts as a neuromodulator in the central nervous system. To assess the role of NO in modulating striatal activity, single-unit recording was combined with iontophoresis to study presumed spiny projection neurons in urethane-anesthetized male rats. Striatal neurons recorded were essentially quiescent and were therefore activated to fire by the iontophoretic administration of glutamate, pulsed in cycles of 30 sec on and 40 sec off. In this study, iontophoresis of 3-morpholinosydnonimine hydrochloride (SIN 1), a nitric oxide donor, produced reproducible, current-dependent inhibition of glutamate-induced excitation in 12 of 15 striatal neurons, r…

MaleAction PotentialsReceptors Cytoplasmic and NuclearPharmacologyMedium spiny neuronNitric OxideNitric oxideCellular and Molecular Neurosciencechemistry.chemical_compoundSoluble Guanylyl CyclasePremovement neuronal activityAnimalsRats WistarCyclic guanosine monophosphateNeuronsbiologyIontophoresisGlutamate receptorIontophoresisCorpus StriatumRatsNitric oxide synthasenervous systemchemistryBiochemistrySolubilityGuanylate CyclaseMolsidominebiology.proteinSoluble guanylyl cyclaseSynapse (New York, N.Y.)
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Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

MaleAgingMitochondrial DiseasesMitochondrial MyopathyUbiquinoneCardiomyopathylcsh:MedicineMitochondrionAMP-Activated Protein Kinasesp38 Mitogen-Activated Protein KinasesAntioxidantsAdenosine TriphosphateAMP-activated protein kinaseTrinucleotide RepeatsFibrosisMolecular Cell BiologyChildlcsh:ScienceHeat-Shock ProteinsRegulation of gene expressionMultidisciplinaryMovement DisordersbiologyNeuromuscular DiseasesMiddle AgedCatalasePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaCell biologyMitochondriaDNA-Binding ProteinsNeurologyDisease ProgressionMedicineFemalemedicine.symptomSignal TransductionResearch ArticleAdultcongenital hereditary and neonatal diseases and abnormalitiesAtaxiaAdolescentMitochondrial ProteinsmedicineGeneticsHumansBiologyAllelesGlutathione PeroxidaseSuperoxide Dismutaselcsh:RHuman GeneticsFibroblastsmedicine.diseaseMolecular biologyOxidative StressMitochondrial biogenesisGene Expression RegulationFriedreich Ataxiabiology.proteinFrataxinlcsh:QEnergy MetabolismReactive Oxygen SpeciesTranscription FactorsPLoS ONE
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