Search results for "Cyclase"

showing 10 items of 141 documents

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

2016

Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing. Design We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likely disease-causing mutations in patients and in their family members, followed by functional studies. Results We identified novel de novo missense mutations in GUCY2C, the gene encod…

DiarrheaMale0301 basic medicinemedicine.medical_specialtyReceptors PeptideColonGuanylinGuanosine MonophosphateMutation MissenseReceptors EnterotoxinGUANYLATE CYCLASEBiologyCHRONIC DIARRHOEAPathogenesis03 medical and health scienceschemistry.chemical_compoundsymbols.namesakeGermline mutationInternal medicineBACTERIAL ENTEROTOXINSmedicineHumansMissense mutationAbnormalities MultipleGenetic Predisposition to Disease1506Intestinal MucosaCyclic guanosine monophosphateSanger sequencingPAEDIATRIC DIARRHOEASodiumGastroenterologyInfantMolecular Reproduction Development & Genetics (formed by the merger of DBGL and CRBME)Molecular biologyIntestines030104 developmental biologyEndocrinologyIntestinal AbsorptionReceptors Guanylate Cyclase-CoupledchemistryINTESTINAL ION TRANSPORTsymbolsFemaleMetabolism Inborn ErrorsIntracellularUroguanylinGut
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Ras-pathway has a dual role in yeast galactose metabolism

2007

AbstractIn the yeast Saccharomyces cerevisiae the genes involved in galactose metabolism (GAL1,7,10) are transcriptionally activated more than a 1000-fold in the presence of galactose as the sole carbon source in the culture media. In the present work, we monitored the activity of the GAL10 gene promoter in different Ras-cAMP genetic backgrounds. We demonstrate that overexpression of C-terminus of the nucleotide exchange factor Cdc25p stimulates GAL10 transcription in yeast strains carrying the contemporary deletion of both RAS genes. Moreover, the deletion of the chromosomal CDC25 gene provokes impaired growth on galactose based media in yeast strain lacking both RAS genes and adenylate cy…

Galactose metabolismSaccharomyces cerevisiae ProteinsSaccharomyces cerevisiaeBiophysicsGene ExpressionSaccharomyces cerevisiaeRas glucose and galactose metabolism cancerGTP-binding proteinSignal transductionBiochemistryLeloir pathwaychemistry.chemical_compoundRas-GRF1Protein kinase AStructural BiologyGenes ReporterGene Expression Regulation FungalGeneticsRNA MessengerProtein kinase APromoter Regions GeneticMolecular BiologyChromosomal DeletionAllelesbiologyras-GRF1GalactosePromoterCell Biologybiology.organism_classificationLeloir pathwayExchange factorPhenotypechemistryBiochemistryGalactoseras ProteinsSignal transductionGene DeletionAdenylyl CyclasesPlasmidsFEBS Letters
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Nitric Oxide/Cyclic Guanosine Monophosphate Signaling via Guanylyl Cyclase Isoform 1 Mediates Early Changes in Synaptic Transmission and Brain Edema …

2021

Traumatic brain injury (TBI) often induces structural damage, disruption of the blood-brain barrier (BBB), neurodegeneration, and dysfunctions of surviving neuronal networks. Nitric oxide (NO) signaling has been suggested to affect brain functions after TBI. The NO exhibits most of its biological effects by activation of the primary targets-guanylyl cyclases (NO-GCs), which exists in two isoforms (NO-GC1 and NO-GC2), and the subsequently produced cyclic guanosine monophosphate (cGMP). However, the specific function of the NO-NO-GCs-cGMP pathway in the context of brain injury is not fully understood. To investigate the specific role of the isoform NO-GC1 early after brain injuries, we perfor…

Gene isoform030506 rehabilitationTraumatic brain injuryBrain EdemaReceptors Cell SurfaceNeurotransmissionBlood–brain barrierNitric OxideSynaptic TransmissionNitric oxide03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineBrain Injuries TraumaticmedicinePremovement neuronal activityAnimalsCyclic guanosine monophosphateCyclic GMPMice KnockoutNeurodegenerationSomatosensory Cortexmedicine.diseaseIsoenzymesmedicine.anatomical_structurenervous systemchemistryGuanylate CyclaseNeurology (clinical)0305 other medical scienceNeuroscience030217 neurology & neurosurgerySignal TransductionJournal of neurotrauma
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Nitric Oxide: Biological Synthesis and Functions

2012

The pluripotent gaseous messenger molecule nitric oxide (NO) controls vital functions such as neurotransmission or vascular tone (via activation of soluble guanylyl cyclase), gene transcription, mRNA translation (via iron-responsive elements), and post-translational modifications of proteins (via ADP-ribosylation). In higher concentrations, NO is capable of destroying parasites and tumor cells by inhibiting iron-containing enzymes or directly interacting with the DNA of these cells. In view of this multitude of functions of NO, it is important to understand the mechanisms by which cells accomplish and regulate the production of this molecule. In mammals, three isozymes of NO synthase (NOS; …

Gene isoformNADPH oxidasebiologyNeurodegenerationInflammationmedicine.diseaseIsozymeNitric oxideCell biologychemistry.chemical_compoundchemistrymedicinebiology.proteinmedicine.symptomSoluble guanylyl cyclasePeroxynitrite
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Effects of histamine on dentate granule cells in vitro

1990

Abstract Hippocampal slices from rat brain were exposed to histamine and related substances in a perfusion chamber. Granule cells of the dentate gyrus were studied with conventional extra- and intracellular recording and a single electrode voltage clamp. Histamine caused, through activation of H 2 -receptors, a small depolarization, an increase in the number of synaptic and action potentials, a block of the long lasting (but not the early) component of spike afterhyperpolarizations and a reduction of the accommodation of action potential firing. These effects were mimicked by forskolin (suggests activation of adenylate cyclase). In voltage clamp, histamine blocked a long lasting calcium-dep…

General NeuroscienceDentate gyrusColforsinHistaminergicAction PotentialsRats Inbred StrainsIn Vitro TechniquesPerforant pathInhibitory postsynaptic potentialHippocampusMembrane PotentialsRatschemistry.chemical_compoundmedicine.anatomical_structurechemistryHistamine H2 receptormedicineExcitatory postsynaptic potentialBiophysicsAnimalsHistamine H3 receptorNeuroscienceHistamineAdenylyl CyclasesHistamineNeuroscience
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Presynaptic nitric oxide/cGMP facilitates glutamate release via hyperpolarization-activated cyclic nucleotide-gated channels in the hippocampus

2011

In hippocampal neurons, synaptic transmission is affected by a variety of modulators, including nitric oxide (NO), which was proposed as a retrograde messenger as long as two decades ago. NO signals via two NO-sensitive guanylyl cyclases (NO-GCs) (NO-GC1 and NO-GC2) and the subsequent increase in cGMP. Lack of long-term potentiation in mice deficient in either one of the two NO-GCs demonstrates the involvement of both NO-GCs in synaptic transmission. However, the physiological consequences of NO/cGMP and the cellular mechanisms involved are unknown. Here, we analyzed glutamatergic synaptic transmission, most likely reflecting glutamate release, in the hippocampal CA1 region of NO-GC knockou…

General NeuroscienceGlutamate receptorLong-term potentiationHyperpolarization (biology)BiologyNeurotransmissionNitric oxideCell biologychemistry.chemical_compoundGlutamatergicBiochemistrychemistryRetrograde signalingSoluble guanylyl cyclaseEuropean Journal of Neuroscience
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Migrating neuroblasts of the rostral migratory stream are putative targets for the action of nitric oxide

2007

It has been demonstrated that the gaseous messenger nitric oxide influences cell proliferation and cell migration, and therefore affects adult neurogenesis in mammals. Here, we investigated the putative targets for this action in the rostral migratory stream of the rat. We used immunocytochemical detection of the beta1 subunit of the enzyme soluble guanylyl cyclase, which can be activated by nitric oxide. Our results under light and electron microscopy demonstrated that the migrating neuroblasts (type A cells) were beta1-immunopositive. The astrocytes (type B cells), immature precursors (type C cells) and ependymal cells (type E cells) were beta1-immunonegative. The neurochemical characteri…

Glial fibrillary acidic proteinbiologyRostral migratory streamGeneral NeuroscienceNeurogenesisCell migrationCell biologyNitric oxidechemistry.chemical_compoundNeuroblastchemistryBiochemistrySecond messenger systembiology.proteinSoluble guanylyl cyclaseEuropean Journal of Neuroscience
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A constitutively active pituitary adenylate cyclase activating polypeptide (PACAP) type I receptor shows enhanced photoaffinity labeling of its highl…

2001

Abstract In the present study, we have analyzed a previously identified constitutively active pituitary adenylate cyclase activating polypeptide (PACAP) type I (PAC1) receptor with a deletion of the single amino acid residue Glu 261 (Y.-J. Cao, G. Gimpl, F. Fahrenholz, A mutation of second intracellular loop of pituitary adenylate cyclase activating polypeptide type I receptor confers constitutive receptor activation, FEBS Lett. 469 (2000)). This glutamic acid residue is highly conserved within the second intracellular loop of class II G protein-coupled receptors and may thus be of importance for many members of this receptor class. To explore the molecular characteristics of this mutant re…

GlycosylationBiophysicsReceptors Pituitary Adenylate Cyclase-Activating PolypeptideBiochemistryCyclaseAmidohydrolasesStructural BiologyEnzyme-linked receptorAnimalsPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase5-HT5A receptorReceptors Pituitary HormoneReceptorMolecular BiologyCOS cellsPhotoaffinity labelingChemistryAffinity LabelsGlutamic acidMolecular biologyRatsMolecular WeightBiochemistryCOS CellsMutationSignal transductionAdenylyl CyclasesPlasmidsReceptors Pituitary Adenylate Cyclase-Activating Polypeptide Type IBiochimica et biophysica acta
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Oxidative stress tolerance, adenylate cyclase, and autophagy are key players in the chronological life span of Saccharomyces cerevisiae during winema…

2012

Most grape juice fermentation takes place when yeast cells are in a nondividing state called the stationary phase. Under such circumstances, we aimed to identify the genetic determinants controlling longevity, known as the chronological life span. We identified commercial strains with both short (EC1118) and long (CSM) life spans in laboratory growth medium and compared them under diverse conditions. Strain CSM shows better tolerance to stresses, including oxidative stress, in the stationary phase. This is reflected during winemaking, when this strain has an increased maximum life span. Compared to EC1118, CSM overexpresses a mitochondrial rhodanese gene-like gene, RDL2, whose deletion lead…

Growth mediumMicrobial ViabilityEcologybiologyGene Expression ProfilingAutophagySaccharomyces cerevisiaeAdenylate kinaseWineSaccharomyces cerevisiaeProtein degradationbiology.organism_classificationApplied Microbiology and BiotechnologyCyclaseYeastchemistry.chemical_compoundOxidative StressBiochemistrychemistryStress PhysiologicalAutophagyMaximum life spanFood ScienceBiotechnologyAdenylyl Cyclases
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Modulation of NMDA receptor function by cyclic AMP in cerebellar neurones in culture

2004

The signal transduction pathways involved in NMDA receptor modulation by other receptors remain unclear. cAMP could be involved in this modulation. The aim of this work was to analyse the contribution of cAMP to NMDA receptor modulation in cerebellar neurones in culture. Forskolin increases cAMP and results in increased intracellular calcium and cGMP that are prevented by blocking NMDA receptors. Similar effects were induced by two cAMP analogues, indicating that cAMP leads to NMDA receptor activation. It has been reported that phosphorylation of Ser897 of the NR1 subunit of NMDA receptors by cAMP-dependent protein kinase (PKA) activates the receptors. Forskolin increases Ser897 phosphoryla…

Intracellular Fluidmedicine.medical_specialty8-Bromo Cyclic Adenosine MonophosphateBiologyReceptors N-Methyl-D-AspartateBiochemistryCellular and Molecular Neurosciencechemistry.chemical_compoundCerebellumInternal medicineCyclic AMPmedicineAnimalsCyclic adenosine monophosphateNerve Growth FactorsEnzyme InhibitorsPhosphorylationRats WistarProtein kinase AReceptorLong-term depressionCyclic GMPCells CulturedNeuronsNeurotransmitter AgentsForskolinColforsinNeuropeptidesCyclic AMP-Dependent Protein KinasesRatsPituitary adenylate cyclase-activating peptideEndocrinologynervous systemchemistryPituitary Adenylate Cyclase-Activating PolypeptideNMDA receptorCalciumSignal transductionExcitatory Amino Acid AntagonistsSignal TransductionJournal of Neurochemistry
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