Search results for "ion channels"

showing 10 items of 137 documents

The Vibrio choleare haemolysin anion channel is required for cell vacuolation and death

2002

SummarySeveral strains of Vibrio cholerae secrete ahaemolytic toxin of 63kDa, termed V. cholerae cytolysin (VCC). This toxin causes extensive vacuo-lation and death of cells in culture and forms ananion-selective channel in planar lipid bilayers and incells. Here, we identify inhibitors of the VCC anionchannel and show that the formation of the anionchannel is necessary for the development of the vacuoles and for the cell death induced by this toxin. Using markers of cell organelles, we show that vacuoles derive from different intracellular com-partments and we identify the contribution of lateendosomes and of the trans -Golgi network in vacuolebiogenesis.Introduction The Gram-negative bact…

4-Acetamido-4'-isothiocyanatostilbene-22'-disulfonic AcidImmunologyLipid BilayersVirulenceGolgi ApparatusVacuoleEndosomesBiology44'-Diisothiocyanostilbene-22'-Disulfonic AcidIn Vitro Techniquesmedicine.disease_causeTransfectionMicrobiologyModels BiologicalAmmonium ChlorideIon ChannelsMicrobiologyCell LineHemolysin ProteinsBacterial ProteinsVirologyOrganelleChlorocebus aethiopsmedicineAnimalsHumansSecretionVero CellsVibrio choleraeCell DeathCytotoxinsHemolysinAnti-Bacterial AgentsVibrio choleraeVacuolesCytolysinMacrolidesIntracellular
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

AchromatopsiaGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresGATED CATION CHANNELCNGB3 mutationsNonsense mutationMutantCyclic Nucleotide-Gated Cation ChannelsColor Vision DefectsGenes RecessiveLocus (genetics)Gene mutationBiologyTOTAL COLOURBLINDNESSIon ChannelsCLONINGDogscyclic nucleotide-gated channelGNAT2GeneticsmedicineLOCUSAnimalsHumansMissense mutationNeurosensory disorders [UMCN 3.3]ACHM3 locusDog DiseasesAlleleAllelesGenetics (clinical)Geneticstotal colorblindnessGNAT2PHOTORECEPTORSDYSTROPHYmedicine.diseaseCONE DEGENERATIONGENEeye diseasesPhenotypeEvaluation of complex medical interventions [NCEBP 2]MutationRetinal Cone Photoreceptor Cellssense organsachromatopsiarod monochromacyALPHA-SUBUNIThuman activities
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A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease

2017

IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die prematurely after birth. Here, we report a 40-year-old male referred to for abdominal and thoracic aortic dissection with associated aortic root aneurysm, PKD, lymphocytopenia with a history of T cell lymphoblastic lymphoma, white hair since the age of 20, and learning difficulties. PKD, which was also detected in the father and sister, was related to an inherited PKD1 mutation. The combination of PKD with gray hair and lymphocytopenia was also r…

AdultMale0301 basic medicineTRPP Cation Channelsphenotypebcl2 geneBiologymicro rnaMice03 medical and health sciencesdown-regulationsymptom aggravating factorshemic and lymphatic diseasest-lymphocyteGene expressionGeneticsmedicinePolycystic kidney diseaseAnimalsHumansGenetic Predisposition to Disease[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsgenesMolecular BiologyGeneGenetics (clinical)Exome sequencingMice KnockoutPKD1apoptosisExonsGeneral MedicinePolycystic Kidney Autosomal Dominantmedicine.diseasePhenotypePedigreeUp-Regulation3. Good healthMicroRNAs030104 developmental biologyMRNA SequencingProto-Oncogene Proteins c-bcl-2[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsImmunologyCancer researchLymphocytopeniapolycystic kidney diseasesbcl-2 proteinHuman Molecular Genetics
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Effect of ouabain and furosemide on erythrocyte sodium and phosphate transport.

1981

The effects of ouabain and furosemide on the unidirectional efflux of sodium and phosphate ions were studied in freshly drawn human red blood cells (RBCs). In the presence of physiologic concentrations of sodium and potassium the rate of sodium efflux was reduced by 74% due to ouabain sensitivity. Furosemide (1.0 mmol/l) reduced ouabain-insensitive sodium transport rate by a further 50%. Thus, 13% of total sodium efflux was inhibited by furosemide when ouabain was present. In the absence of ouabain, however, furosemide inhibited 31% of total sodium transport, indicating that it also affected ouabain-sensitive sodium efflux. Phosphate transfer of RBCs was almost 1.0 mmol/l RBCs per hour. Ery…

AdultMaleCell Membrane PermeabilityErythrocytesPotassiumSodiumchemistry.chemical_elementBiological Transport ActiveOuabainIon ChannelsPhosphateschemistry.chemical_compoundHydrolysisFurosemidemedicineHumansPharmacology (medical)OuabainPharmacologyChromatographyChemistrySodiumFurosemidePhosphateBiochemistryPotassiumEffluxSodium-Potassium-Exchanging ATPaseAdenosine triphosphatemedicine.drugClinical pharmacology and therapeutics
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Uncoupling protein-2 (UCP2) induces mitochondrial proton leak and increases susceptibility of non-alcoholic steatohepatitis (NASH) liver to ischaemia…

2008

Background: The mechanisms of progression from fatty liver to steatohepatitis and cirrhosis are not well elucidated. Mitochondrial dysfunction represents a key factor in the progression of non-alcoholic steatohepatitis (NASH) as mitochondria are the main cellular site of fatty acid oxidation, ATP synthesis and reactive oxygen species (ROS) production. Aims: (1) To evaluate the role of the uncoupling protein 2 in controlling mitochondrial proton leak and ROS production in NASH rats and humans; and (2) to assess the acute liver damage induced by ischaemia–reperfusion in rats with NASH. Methods: Mitochondria were extracted from the livers of NASH humans and rats fed a methionine and choline de…

AdultMaleMitochondrial ROSmedicine.medical_specialtyMitochondria LiverMitochondrionBiologymedicine.disease_causeIon ChannelsMitochondrial ProteinsAdenosine TriphosphateInternal medicinemedicineAnimalsHumansUncoupling proteinUncoupling Protein 2Rats WistarBeta oxidationAdenosine TriphosphatasesMembrane Potential MitochondrialAldehydesFatty liverGastroenterologyMiddle Agedmedicine.diseaseRatsFatty LiverOxidative StressEndocrinologyMitochondrial respiratory chainLiverBiochemistryReperfusion InjuryAcute DiseaseDisease ProgressionFemaleSteatohepatitisReactive Oxygen SpeciesOxidative stressGut
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Immunohistochemical profile of human pancreatic pacinian corpuscles.

2010

To analyze the immunohistochemical profile of the human pancreatic pacinian corpuscles in comparison with that of the cutaneous pacinian corpuscles. In addition, we studied a Pacinilike corpuscle found in the adventitia of a pancreatic artery.We used immunohistochemistry to detect specific antigens for corpuscular constituents, specific antibodies for the identification of Adelta- and C-sensory fibers and for the detection of several growth factor receptors, and some members of the degenerin/epithelial Na channel superfamily of proteins.Approximately 62% of pancreatic pacinian corpuscles have 2 to 10 axonic profiles each enclosed by its own inner core: 1 or 2 of these axonic profiles displa…

AdultMalePathologymedicine.medical_specialtySensory Receptor CellsEndocrinology Diabetes and MetabolismNerve Tissue ProteinsEndocrinologyAdventitiaGlial Fibrillary Acidic ProteinInternal MedicinemedicineHumansReceptor trkBReceptors Growth FactorEpithelial Sodium ChannelsPancreasHepatologybusiness.industryMucin-1AnatomyMiddle AgedImmunohistochemistryAcid Sensing Ion Channelsmedicine.anatomical_structureDegenerin Sodium ChannelsImmunohistochemistryPancreasbusinessPacinian CorpusclesPacinian CorpusclePancreas
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The UCP2 -866 G>A promoter region polymorphism is associated with nonalcoholic steatohepatitis

2015

Background & Aims Uncoupling protein 2 - UCP2 - regulates mitochondrial lipid fluxes and reactive oxygen species production by the respiratory chain. The −866 G>A UCP2 promoter region polymorphism has been linked to insulin resistance and lipid metabolism. The aim of this study was to assess whether the −866 G>A UCP2 polymorphism predisposes to nonalcoholic steatohepatitis in patients at risk, and the relationship with lipid metabolism and hepatic UCP2 expression. Methods We considered 688 Italian patients who underwent liver biopsy for suspected NASH, and 232 healthy controls. The UCP2 −866 G>A polymorphism was determined by allele specific oligonucleotide probes, hepatic UCP2 mRNA levels …

AdultMalemedicine.medical_specialtyGenotypeRespiratory chainGene ExpressionBiologyIon ChannelsMitochondrial Proteinsgenetic polymorphism; lipid metabolism;liver; mitochondria; nonalcoholic steatohepatitis; uncoupling protein-2Insulin resistanceNon-alcoholic Fatty Liver DiseaseRisk FactorsDiabetes mellitusInternal medicineGenotypemedicineHumansUncoupling Protein 2Promoter Regions GeneticUncoupling protein-2AllelesAgedPolymorphism GeneticGenetic polymorphismmedicine.diagnostic_testHepatologyLipid metabolismMiddle Agedmedicine.diseaseImpaired fasting glucoseMitochondriaEndocrinologyLogistic ModelsLipid metabolismLiverLiver biopsyCase-Control StudiesFemaleSteatosisInsulin ResistanceNonalcoholic steatohepatiti
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Involvement of cholinergic nicotinic receptors in the menthol-induced gastric relaxation.

2014

We have previously demonstrated that menthol reduces murine gastric tone in part through a neural mechanism, involving adrenergic pathways and reduction of ongoing release of acetylcholine from enteric nerves. In the present study we aimed to verify whether the gastric relaxation to menthol may be triggered by interaction with neural receptors or ionic channels proteins, such as transient receptor potential (TRP)-melastatin8 (TRPM8), TRP-ankyrin 1 (TRPA1), 5-hydroxytriptamine 3 (5-HT3) receptor or cholinergic nicotinic receptors. Spontaneous mechanical activity was detected in vitro as changes in intraluminal pressure from isolated mouse stomach. Menthol (0.3-30 mM) induced gastric relaxati…

AgonistMalemedicine.medical_specialtySerotoninmedicine.drug_classDimethylphenylpiperaziniumMuscle RelaxationTRPM Cation ChannelsPharmacologyReceptors NicotinicSettore BIO/09 - Fisiologiachemistry.chemical_compoundMiceGanglion type nicotinic receptorTransient Receptor Potential ChannelsIsothiocyanatesInternal medicinemedicineTRPM8AnimalsSerotonin 5-HT3 Receptor AntagonistsRNA MessengerTRPA1 Cation ChannelPharmacologyStomachmenthol gastric relaxation TRPM8 TRPA1 nicotinic receptorsReceptor antagonistOndansetronMice Inbred C57BLMentholEndocrinologyNicotinic agonistchemistryPurinesHexamethoniumAcetanilidesAlpha-4 beta-2 nicotinic receptorGastrointestinal Motilitymedicine.drugEuropean journal of pharmacology
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Structural Mechanism of N-Methyl-D-Aspartate Receptor Type 1 Partial Agonism

2012

N-methyl-D-aspartate (NMDA) receptors belong to a family of ionotropic glutamate receptors that contribute to the signal transmission in the central nervous system. NMDA receptors are heterotetramers that usually consist of two GluN1 and GluN2 monomers. The extracellular ligand-binding domain (LBD) of a monomer is comprised of discontinuous segments that form the functional domains D1 and D2. While the binding of a full agonist glycine to LBD of GluN1 is linked to cleft closure and subsequent ion-channel opening, partial agonists are known to activate the receptor only sub-maximally. Although the crystal structures of the LBD of related GluA2 receptor explain the mechanism for the partial a…

AgonistProtein Structuremedicine.drug_classGlycineMolecular ConformationBiophysicslcsh:MedicineMolecular Dynamics SimulationLigandsta3111Receptors N-Methyl-D-AspartateBiochemistryBiophysics Simulationsta3112Partial agonistIon ChannelsChemical BiologyMacromolecular Structure AnalysismedicineBiomacromolecule-Ligand Interactionslcsh:ScienceReceptorBiologyta116Ion channelCrystallographyMultidisciplinaryChemistrylcsh:Rta1182Glutamate receptorProteinsComputational BiologyNeurotransmittersProtein Structure TertiaryTransmembrane ProteinsBiochemistryCycloserineBiophysicsNMDA receptorLigand-gated ion channellcsh:Qhormones hormone substitutes and hormone antagonistsProtein BindingResearch ArticleNeuroscienceIonotropic effectPLoS ONE
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Facilitated Anion Transport Induces Hyperpolarization of the Cell Membrane That Triggers Differentiation and Cell Death in Cancer Stem Cells

2015

Facilitated anion transport potentially represents a powerful tool to modulate various cellular functions. However, research into the biological effects of small molecule anionophores is still at an early stage. Here we have used two potent anionophore molecules inspired in the structure of marine metabolites tambjamines to gain insight into the effect induced by these compounds at the cellular level. We show how active anionophores, capable of facilitating the transmembrane transport of chloride and bicarbonate in model phospholipid liposomes, induce acidification of the cytosol and hyperpolarization of plasma cell membranes. We demonstrate how this combined effect can be used against canc…

AnionsPHPhysiologyCellular differentiationTRANSMEMBRANE TRANSPORTChemistry OrganicFisiologiaPROGRESSIONApoptosisNanotechnologyStem cellsBiochemistryCatalysisCell LineMembrane PotentialsCell membraneColloid and Surface ChemistryCancer stem cellBINDINGPathologymedicineHumansSYNTHETIC ION CHANNELSMembrane potentialIon TransportANALOGSChemistryCHLORIDE TRANSPORTCell MembraneApoptosiQuímica orgánicaCell DifferentiationMICROBIOLOGIAGeneral ChemistryHyperpolarization (biology)Membrane transportCARRIERSPatologiaAPOPTOSISCell biologyCytosolmedicine.anatomical_structureLiposomesCancer cellNeoplastic Stem CellsCèl·lules mareJournal of the American Chemical Society
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