Search results for " phosphates"

showing 10 items of 84 documents

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

2013

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…

GenotypePhosphataseMicrognathismMolecular Sequence DataLimb Deformities CongenitalMutation MissenseBiologyCompound heterozygositymedicine.disease_causeFrameshift mutation03 medical and health sciencesMice0302 clinical medicinePhosphatidylinositol PhosphatesEctodermal DysplasiaReportmedicineGeneticsMissense mutationAnimalsHumansExomeGenetic Predisposition to DiseaseGenetics(clinical)Yunis–Varon syndromeFrameshift MutationGenetics (clinical)030304 developmental biology0303 health sciencesMutationBone DevelopmentBase SequenceFlavoproteinsNeurodegenerationSequence Analysis DNAFibroblastsmedicine.diseaseMolecular biologyPhenotypePhosphoric Monoester HydrolasesCleidocranial Dysplasia030217 neurology & neurosurgeryThe American Journal of Human Genetics
researchProduct

Cytosolic Ca2+ and Phosphoinositide Hydrolysis Linked to Constitutively Active α1d-Adrenoceptors in Vascular Smooth Muscle

2003

In the present study, we analyzed changes in intracellular Ca2+ levels and inositol phosphate accumulation related to a population of alpha 1d-adrenoceptors in rat aorta resembling constitutively active receptors. Following intracellular Ca2+ store depletion by noradrenaline in Ca2+-free medium and removal of the agonist, restoration of extracellular Ca2+ induced four signals: a biphasic (transient and sustained) increase in [Ca2+]i, inositol phosphate accumulation, and a contractile response in the aorta. The transient increase in Ca2+, the inositol phosphate accumulation, and the contractile response were not observed in aortae incubated with prazosin or BMY 7378 [8-[2-[4-(2-methoxyphenyl…

Guanethidinemedicine.medical_specialtyVascular smooth muscleInositol PhosphatesPopulationchemistry.chemical_elementCalciumBiologyPhosphatidylinositolsMuscle Smooth VascularAdrenergic AgentsReceptors Adrenergic alpha-1Internal medicinemedicinePrazosinExtracellularAnimalsRats WistarInositol phosphateeducationAortaPharmacologyCalcium metabolismchemistry.chemical_classificationeducation.field_of_studyHydrolysisCalcium Channel BlockersRatsEndocrinologychemistryBiophysicsMolecular MedicineCalciumIntracellularSignal Transductionmedicine.drugJournal of Pharmacology and Experimental Therapeutics
researchProduct

Inhibitory effect of nonviable preparations from human immunodeficiency virus 1 on inositol phospholipid metabolism

1989

Previously it was established [Pahwa, S., Pahwa, R., Saxinger, C., Gallo, R. C. & Good, R. A. (1985) Proc. Natl Acad. Sci. USA 82, 8198] that nonviable preparations of human immunodeficiency virus 1 (HIV-1) abolish the proliferative response of human lymphocytes to phytohemagglutinin A. Now we describe that this effect might be, at least partially, due to an impairment of the function of phospholipase C. It was found that addition of HIV-1 preparation to lymphocytes diminished the stimulation of phosphatidylinositol phosphorylation caused by phytohemagglutinin A. Moreover, this preparation completely abolished the phytohemagglutinin-A-stimulated release of inositol trisphosphate and prevent…

Inositol PhosphatesInositol 145-TrisphosphateBiologyPhospholipasePhosphatidylinositolsBiochemistrychemistry.chemical_compoundCytosolCyclic AMPPhosphatidylinositol phosphorylationHumansInositolLymphocytesPhosphorylationPhytohemagglutininsInositol phosphateProtein kinase AProtein Kinase CProtein kinase Cchemistry.chemical_classificationCell MembraneVirionBiological TransportInositol trisphosphateMolecular biologyCytosolchemistryBiochemistryType C PhospholipasesHIV-1Sugar PhosphatesCell DivisionEuropean Journal of Biochemistry
researchProduct

Enhanced levels of S-linalool by metabolic engineering of the terpenoid pathway in spike lavender leaves

2013

Transgenic Lavandula latifolia plants overexpressing the linalool synthase (LIS) gene from Clarkia breweri, encoding the LIS enzyme that catalyzes the synthesis of linalool were generated. Most of these plants increased significantly their linalool content as compared to controls, especially in the youngest leaves, where a linalool increase up to a 1000% was observed. The phenotype of increased linalool content observed in young leaves was maintained in those T1 progenies that inherit the LIS transgene, although this phenotype was less evident in the flower essential oil. Cross-pollination of transgenic spike lavender plants allowed the generation of double transgenic plants containing the …

LavenderAcyclic MonoterpenesLavandulaTransgeneLavandula latifoliaBioengineeringGenetically modified cropsClarkiaBiologyApplied Microbiology and Biotechnologylaw.inventionchemistry.chemical_compoundLinaloollawBotanyTransgenesHydro-LyasesEssential oilPlant ProteinsPlants Genetically Modifiedbiology.organism_classificationTerpenoidPlant LeavesErythritolLavandulachemistryMonoterpenesSugar PhosphatesBiotechnologyMetabolic Engineering
researchProduct

Crystal structure and magnetism of Co(HPO3)⋅H2O : A novel layered compound of Co(II)

1990

Under the terms of the Creative Commons Attribution (CC BY) license to their work.-- et al.

Magnetic PropertiesMagnetismGeneral Physics and AstronomyCrystal structureMagnetic Susceptibility:FÍSICA [UNESCO]HydratesMedium TemperatureMagnetic structureChemistryCritical ExponentsUNESCO::FÍSICASpace groupHydrogen BondsMagnetic susceptibilityCobalt Compounds ; Acid Phosphates ; Hydrates ; Layers ; Crystal Structure ; Magnetic Properties ; Lattice Parameters ; Space Groups ; Hydrogen Bonds ; Magnetic Susceptibility ; Magnetic Structure ; Critical Exponents ; Ising Model ; Medium TemperatureCrystallographySpace GroupsIsing ModelOctahedronAcid PhosphatesCrystal StructureLattice ParametersIsing modelMagnetic StructureCobalt CompoundsLayersCritical exponent
researchProduct

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
researchProduct

GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWA…

2013

INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) a…

MaleKallmann syndromeEndocrinology Diabetes and MetabolismClinical BiochemistryInositol Phosphatemedicine.disease_causeBiochemistryHypogonadotropic hypogonadismGermlineReceptors G-Protein-CoupledCohort StudiesEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation Missense; Receptors G-Protein-Coupled; Receptors Peptide; Signal Transduction; Young Adult; Germ-Line MutationReceptorsCyclic AMPmutations; Kallmann syndrome; septo-optic dysplasiaMissense mutationReceptorChildMutationMiddle AgedProkineticinPeptideFemaleHumanSignal TransductionAdultmedicine.medical_specialtyReceptors PeptideAdolescentAdolescent Adult Child Cohort Studies Cyclic AMP; metabolism Female Genetic Association Studies Germ-Line Mutation Humans Hypogonadism; epidemiology/genetics Inositol Phosphates; metabolism Male Middle Aged Missense Receptors; G-Protein-Coupled; genetics Receptors; Peptide; genetics Signal Transduction; genetics Young AdultInositol PhosphatesMutation MissenseGenetic Association StudieBiologyG-Protein-CoupledYoung AdultGermline mutationInternal medicinesepto-optic dysplasiamedicineHumansGenetic Association StudiesGerm-Line MutationHypogonadismBiochemistry (medical)Kallmann syndromeProkineticin receptor 2medicine.diseasePROKR2 hypogonadism prokineticinmutationsAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation; Missense; Receptors; G-Protein-Coupled; Peptide; Signal Transduction; Young Adult; Germ-Line MutationEndocrinologyMutationCohort StudieMissense
researchProduct

Organophosphate ester tri-o-cresyl phosphate interacts with estrogen receptor α in MCF-7 breast cancer cells promoting cancer growth

2020

Plastic in the ocean degrades to microplastic, thereby enhancing the leaching of incorporated plasticizers due to the increased particle surface. The uptake of microplastic-derived plasticizers by marine animals and the subsequent entry in the food chain raises concerns for adverse health effects in human beings. Frequently used plasticizers as the organophosphate ester tri-o-cresyl phosphate (TOCP) are known to affect the male reproductive system. However, the overall endocrine potential of TOCP and the underlying molecular mechanisms remain elusive as yet. In this study, we investigated the molecular effects of TOCP on estrogen receptor α (ERα)-transfected HEK-ESR1 cells and the human bre…

MaleModels Molecular0301 basic medicineAngiogenesisEstrogen receptorBreast NeoplasmsEndocrine DisruptorsSLC7A11TransfectionToxicology03 medical and health sciences0302 clinical medicinePlasticizersHumansNeoplasm InvasivenessNeoplasm MetastasisInsulin-like growth factor 1 receptorPharmacologyNeovascularization PathologicbiologyChemistryCell CycleEstrogen Receptor alphaHigh-Throughput Nucleotide SequencingCell cycleCell biologyGene Expression Regulation NeoplasticMolecular Docking SimulationTritolyl PhosphatesHEK293 Cells030104 developmental biologyPRKCDMCF-7030220 oncology & carcinogenesisMCF-7 Cellsbiology.proteinRNAFemaleEstrogen receptor alphaToxicology and Applied Pharmacology
researchProduct

Pre- and postjunctional effects of diadenosine polyphosphates in the guinea-pig vas deferens.

1995

Abstract The pre- and postjunctional activities of a number of diadenosine polyphosphates were examined in the guinea-pig isolated vas deferens at the level of the membrane-potential, using a modified sucrose-gap technique. P1,P3-Di(adenosine 5′)triphosphate (Ap3A), P1,P4-di(adenosine 5′)tetraphosphate (Ap4A) and P1,P5-di(adenosine 5′)pentaphosphate (Ap5 A) all caused concentration-dependent depolarization of the smooth muscle membrane. The potency order was: Ap5A > Ap4A. Ap3A. P1, P2-Di(adenosine 5′)pyrophosphate (Ap2A) did not evoke depolarization even at the highest concentration tested (1 mM). All the dinucleotides caused a reduction in the amplitude of evoked excitatory junction…

Malemedicine.medical_specialtyGuinea PigsPharmaceutical ScienceIn Vitro TechniquesMembrane PotentialsVas DeferensAdenine nucleotideInternal medicinemedicineAnimalsPharmacologyDose-Response Relationship DrugChemistryPurinergic receptorAntagonistVas deferensReceptors PurinergicDepolarizationAdenosine receptorAdenosinemedicine.anatomical_structureEndocrinologyExcitatory postsynaptic potentialDinucleoside Phosphatesmedicine.drugThe Journal of pharmacy and pharmacology
researchProduct

Iron and lithium-iron alkyl phosphates as nanostructured material for rechargeable batteries

2018

Abstract Inorganic/organic hybrid materials composed by iron atoms bonded to an alkyl phosphate can be easily synthesized by mixing at 110 °C iron chlorides with tri-alkyl phosphates. Since structural information on these products are lacking and taking into account that lithium/iron organic hybrid materials are important in lithium ion battery technology we report here the physico-chemical characterization of different hybrid lithium/iron butylphosphates. These materials are characterized by the presence of elongated hexagonal crystals stable up to 315 °C. The insertion of lithium does not affect the local structure. Thanks to such structures the material can be electrochemically-cycled an…

Materials scienceHybrid materials; Lithium ion batteries; Tri n-butyl phosphates; Materials Science (all); Condensed Matter Physics; Mechanics of Materials; Mechanical Engineeringchemistry.chemical_element02 engineering and technology010402 general chemistry01 natural sciencesRedoxLithium-ion batteryIonchemistry.chemical_compoundGeneral Materials ScienceTri n-butyl phosphatesAlkylchemistry.chemical_classificationMechanical EngineeringAlkyl phosphate021001 nanoscience & nanotechnologyCondensed Matter Physics0104 chemical sciencesCharacterization (materials science)chemistryChemical engineeringLithium ion batteriesMechanics of MaterialsLithiumMaterials Science (all)Hybrid materials0210 nano-technologyHybrid material
researchProduct