Search results for "transporters"

showing 10 items of 203 documents

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

2019

Objective To evaluate the clinical presentation of patients with GM1 gangliosidosis and to determine whether specific clinical or biochemical signs could lead to a prompt diagnosis. Study design We retrospectively analyzed clinical, biochemical, and genetic data of 22 patients with GM1 gangliosidosis from 5 metabolic centers in Germany and Austria. Results Eight patients were classified as infantile, 11 as late-infantile, and 3 as juvenile form. Delay of diagnosis was 6 ± 2.6 months in the infantile, 2.6 ± 3.79 years in the late-infantile, and 14 ± 3.48 years in the juvenile form. Coarse facial features, cherry red spots, and visceromegaly occurred only in patients with the infantile form. …

Malemedicine.medical_specialtyMovement disordersAdolescentGenotypeUrinary systemDNA Mutational AnalysisDiseaseGastroenterologyYoung Adult03 medical and health sciences0302 clinical medicineGermany030225 pediatricsInternal medicineGenotypemedicineHumans030212 general & internal medicineChildRetrospective StudiesDystoniaGangliosidosis GM1Coarse facial featuresbusiness.industryIncidenceInfantDNAbeta-Galactosidasemedicine.diseaseDysphagiaPhenotypeAustriaChild PreschoolMutationPediatrics Perinatology and Child HealthATP-Binding Cassette TransportersFemalemedicine.symptombusinessVisceromegalyFollow-Up StudiesThe Journal of Pediatrics
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Expression of Na+-d-glucose cotransporter SGLT2 in rodents is kidney-specific and exhibits sex and species differences

2012

With a novel antibody against the rat Na+-d-glucose cotransporter SGLT2 (rSGLT2-Ab), which does not cross-react with rSGLT1 or rSGLT3, the ∼75-kDa rSGLT2 protein was localized to the brush-border membrane (BBM) of the renal proximal tubule S1 and S2 segments (S1 > S2) with female-dominant expression in adult rats, whereas rSglt2 mRNA expression was similar in both sexes. Castration of adult males increased the abundance of rSGLT2 protein; this increase was further enhanced by estradiol and prevented by testosterone treatment. In the renal BBM vesicles, the rSGLT1-independent uptake of [14C]-α-methyl-d-glucopyranoside was similar in females and males, suggesting functional contribution of…

Malemedicine.medical_specialtyPhysiologyImmunocytochemistryCarbohydrate metabolismBiologyKidneyMicechemistry.chemical_compoundimmunocytochemistry; mRNA expression; Na+-D-glucose cotransport;Sex FactorsSodium-Glucose Transporter 2D-GlucoseInternal medicinemedicineAnimalsTestosteroneCastrationRNA MessengerRats WistarKidneyMembrane Transporters Ion Channels and PumpsEstradiolMicrovilliSymportersGalactoseKidney metabolismCell BiologyRatsMice Inbred C57BLGlucosemedicine.anatomical_structureEndocrinologychemistryGalactoseSymporterFemaleCotransporterAmerican Journal of Physiology-Cell Physiology
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Carbon nanotube – Protamine hybrid: Evaluation of DNA cell penetration

2016

International audience; Carbon nanotubes (CNTs) represent a class of nanomaterials with important potential for biomedical and biotechnological applications. CNT based vectorization is an emerging approach to the transport of nucleic acid through cell membrane but limited by detachment of DNA and degradation process. To increase DNA internalization, it was proved that cationic functionalized CNT was essential. In such a way, protamine efficiently used in several transfection processes is a cationic protein which was never associated to CNT.We propose here a novel nanovector based on single-walled carbon nanotubes (SWCNT) functionalized by protamine. Our results based on qPCR methods clearly…

Materials sciencemedia_common.quotation_subjectmammalian-cellsCarbon nanotubesnoncovalent sidewall-functionalizationProtamineNanotechnology02 engineering and technologyCarbon nanotubetransportersphysicochemical propertiesin-vitro010402 general chemistryEndocytosis01 natural sciences[ CHIM ] Chemical Scienceslaw.inventionnonviral gene deliveryCell membranechemistry.chemical_compoundlawCellular internalizationmedicineendocytosis[CHIM]Chemical SciencesGeneral Materials ScienceInternalizationFunctionalizationComputingMilieux_MISCELLANEOUSmedia_commonbiologyMolecular dynamic simulationGeneral ChemistryTransfection[CHIM.MATE]Chemical Sciences/Material chemistry021001 nanoscience & nanotechnologyProtamineproteins0104 chemical sciencesdrug-deliverymedicine.anatomical_structureplasmid dnachemistryBiophysicsNucleic acidbiology.protein0210 nano-technologyNanovectorizationDNA
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Regulation of Calcium Channel Activity by Lipid Domain Formation in Planar Lipid Bilayers

2003

The sarcoplasmic reticulum channel (ryanodine receptor) from cardiac myocytes was reconstituted into planar lipid bilayers consisting of 1-palmitoyl-2-oleoyl-phosphatidylethanolamine (POPE) and 1-palmitoyl-2-oleoyl-phosphatidylcholine (POPC) in varying ratios. The channel activity parameters, i.e., open probability and average open time and its resolved short and long components, were determined as a function of POPE mole fraction (X(PE)) at 22.4 degrees C. Interestingly, all of these parameters exhibited a narrow and pronounced peak at X(PE) approximately 0.80. Differential scanning calorimetric measurements on POPE/POPC liposomes with increasing X(PE) indicated that the lipid bilayer ente…

Membrane FluidityProtein ConformationLipid BilayersBiophysicsAnalytical chemistryMolecular Conformation010402 general chemistryElectric Capacitance01 natural sciencesMembrane Potentials03 medical and health scienceschemistry.chemical_compoundStructure-Activity RelationshipProtein structureMembrane MicrodomainsChannels Receptors and TransportersMembrane fluidityLipid bilayer phase behaviorLipid bilayerPOPC030304 developmental biologyMembrane potential0303 health sciencesLiposomeEndoplasmic reticulumPhosphatidylethanolaminesMembranes ArtificialRyanodine Receptor Calcium Release Channel0104 chemical scienceschemistry13. Climate actionBiophysicsPhosphatidylcholineslipids (amino acids peptides and proteins)Calcium ChannelsIon Channel Gating
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Sensing by the membrane-bound sensor kinase DcuS: exogenous versus endogenous sensing of C(4)-dicarboxylates in bacteria.

2010

Bacteria are able to grow at the expense of both common (succinate, L-malate, fumarate and aspartate) and uncommon (L-tartrate and D-malate) C4-dicarboxylates, which are components of central metabolism. Two types of sensors/regulators responding to the C4-dicarboxylates function in Escherichia coli, Bacillus, Lactobacillus and related bacteria. The first type represents membrane-integral two-component systems, while the second includes cytoplasmic LysR-type transcriptional regulators. The difference in location and substrate specificity allows the exogenous induction of metabolic genes by common C4-dicarboxylates, and endogenous induction by uncommon C4-dicarboxylates. The two-component s…

Microbiology (medical)Dicarboxylic Acid TransportersModels MolecularBacteriaEscherichia coli ProteinsCell MembraneRegulatory siteGene Expression Regulation BacterialBiologyLigand (biochemistry)MicrobiologyTransmembrane domainBiochemistryProtein kinase domainBacterial ProteinsPAS domainExtracellularEscherichia coliDicarboxylic AcidsBinding siteSignal transductionProtein KinasesSignal TransductionFuture microbiology
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Real-Time RT-PCR assay to quantify the expression of fum1 and fum19 genes from the Fumonisin-producing Fusarium verticillioides

2007

Fumonisins are a group of mycotoxins produced by Fusarium species of the Gibberella fujikuroi species complex that contaminate food and feed products, and represent a risk for human and animal health. In this work, we have developed a specific real-time reverse transcription-PCR (RT-PCR) assay to quantify the level of expression of two genes of the fumonisin biosynthetic cluster in F. verticillioides: fum1 (that encodes a polyketide synthase enzyme) and the ABC transporter encoding gene fum19. The level of expression of both genes was compared with the amount of fumonisin B(1) (FB(1)), measured by HPLC, produced by several strains of F. verticillioides in liquid culture. The results indicat…

Microbiology (medical)FusariumbiologyReverse Transcriptase Polymerase Chain ReactionFungal geneticsfood and beveragesRNA Fungalbiology.organism_classificationFumonisinsMicrobiologyMicrobiologychemistry.chemical_compoundFusariumchemistryGene Expression Regulation FungalPolyketide synthaseGene expressionFumonisinbiology.proteinGibberella fujikuroiATP-Binding Cassette TransportersMycotoxinPolyketide SynthasesMolecular BiologyGeneJournal of Microbiological Methods
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Transcriptional expression of selected genes associated with excretion of carboxylic acids from aci mutants of Saccharomyces cerevisiae

2013

Introduction: Saccharomyces cerevisiae is an excellent model organism for studies of transcriptional regulation of metabolic processes in other eukaryotic cells including human cells. Cellular acid-base balance can be disturbed in pathologic situations such as renal acidosis or cancer. The extracellular pH of malignant solid tumors is acidic in the range of 6.5-6.9. EG07 and EG37 aci mutants of Saccharomyces cerevisiae excessively excrete carboxylic acids to glucose-containing media or distilled water. The excreted acids are Krebs and/or glyoxylate cycle intermediates. The genes restoring the wild-type phenotype have function that does not easily explain theAci phenotype.Material/Methods: I…

Microbiology (medical)Transcriptional ActivationSaccharomyces cerevisiae ProteinsCarboxylic acidKrebs and glyoxylate cycleMutantSaccharomyces cerevisiaeCitric Acid CycleGlyoxylate cycleCarboxylic AcidsGene Expressionlcsh:MedicineSaccharomyces cerevisiaeBiologyaci mutantsSpecies SpecificityTranscriptional regulationHumansRNA MessengerGenechemistry.chemical_classificationacid transporterslcsh:RGlyoxylatesMembrane Transport ProteinsBiological Transportbiology.organism_classificationMolecular biologyPhenotypeCitric acid cycleProton-Translocating ATPasesInfectious DiseasesGlucoseBiochemistrychemistryMutationATP-Binding Cassette TransportersPostępy Higieny i Medycyny Doświadczalnej
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Functional cysteine-less subunits of the transporter associated with antigen processing (TAP1 and TAP2) by de novo gene assembly

2002

AbstractWithin the adaptive immune system the transporter associated with antigen processing (TAP) plays a pivotal role in loading of peptides onto major histocompatibility (MHC) class I molecules. As a central tool to investigate the structure and function of the TAP complex, we created cysteine-less human TAP subunits by de novo gene synthesis, replacing all 19 cysteines in TAP1 and TAP2. After expression in TAP-deficient human fibroblasts, cysteine-less TAP1 and TAP2 are functional with respect to adenosine triphosphate (ATP)-dependent peptide transport and inhibition by ICP47 from herpes simplex virus. Cysteine-less TAP1 and TAP2 restore maturation and intracellular trafficking of MHC c…

Models MolecularBiophysicsBiological Transport ActiveBiologyMajor histocompatibility complexTransfectionBiochemistryCell Linechemistry.chemical_compoundAdenosine TriphosphateStructural BiologyATP Binding Cassette Transporter Subfamily B Member 3Cysteine-scanning mutagenesisMHC class IGeneticsHumansCysteineATP Binding Cassette Transporter Subfamily B Member 2Molecular BiologyAntigen PresentationAntigen processingHistocompatibility Antigens Class ICell BiologyTransporter associated with antigen processingMolecular biologyRecombinant ProteinsCell biologyProtein SubunitschemistryAmino Acid SubstitutionAntigen processingPeptide transportMembrane proteinbiology.proteinAdenosine triphosphate-binding cassette transporterTAP2ATP-Binding Cassette TransportersTAP1Adenosine triphosphateFEBS Letters
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Distant downstream sequence determinants can control N-tail translocation during protein insertion into the endoplasmic reticulum membrane.

2000

We have studied the membrane insertion of ProW, an Escherichia coli inner membrane protein with seven transmembrane segments and a large periplasmic N-terminal tail, into endoplasmic reticulum (ER)-derived dog pancreas microsomes. Strikingly, significant levels of N-tail translocation is seen only when a minimum of four of the transmembrane segments are present; for constructs with fewer transmembrane segments, the N-tail remains mostly nontranslocated and the majority of the molecules adopt an 'inverted' topology where normally nontranslocated parts are translocated and vice versa. N-tail translocation can also be promoted by shortening of the N-tail and by the addition of positively charg…

Models MolecularBioquímicaGlycosylationChromosomal translocationBiologyEndoplasmic ReticulumBiochemistryBacterial ProteinsMembranes (Biologia)MicrosomesEscherichia coliAnimalsInner membranePancreasMolecular BiologyEscherichia coli ProteinsEndoplasmic reticulumMembrane ProteinsSTIM1Periplasmic spaceCell BiologyMolecular biologyTransmembrane proteinCell biologyMembrane proteinMutationCatsMicrosomeATP-Binding Cassette TransportersProteïnesJournal of Biological Chemistry
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The Nature of the Stimulus and of the Fumarate Binding Site of the Fumarate Sensor DcuS of Escherichia coli

2005

DcuS is a membrane-associated sensory histidine kinase of Escherichia coli specific for C(4) -dicarboxylates. The nature of the stimulus and its structural prerequisites were determined by measuring the induction of DcuS-dependent dcuB'-'lacZ gene expression. C(4)-dicarboxylates without or with substitutions at C2/C3 by hydrophilic (hydroxy, amino, or thiolate) groups stimulated gene expression in a similar way. When one carboxylate was replaced by sulfonate, methoxy, or nitro groups, only the latter (3-nitropropionate) was active. Thus, the ligand of DcuS has to carry two carboxylate or carboxylate/nitro groups 3.1-3.8 A apart from each other. The effector concentrations for half-maximal i…

Models MolecularMagnetic Resonance SpectroscopyHistidine KinaseRecombinant Fusion ProteinsMolecular Sequence Datamedicine.disease_causeBiochemistryCitric AcidStructure-Activity Relationshipchemistry.chemical_compoundFumaratesEscherichia colimedicineDicarboxylic AcidsAmino Acid SequenceCarboxylatePhosphorylationBinding siteKinase activityTartratesMolecular BiologyEscherichia coliPeptide sequenceDicarboxylic Acid TransportersBinding SitesChemistryEscherichia coli ProteinsAutophosphorylationHistidine kinaseGene Expression Regulation BacterialCell BiologyNitro CompoundsPeptide FragmentsEnzyme ActivationLac OperonBiochemistryMutagenesis Site-DirectedPropionatesProtein KinasesSequence AlignmentBinding domainJournal of Biological Chemistry
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