Search results for "Beta-galactosidase"

showing 10 items of 47 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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Baculovirus-mediated periadventitial gene transfer to rabbit carotid artery

2000

Recombinant Autographa californica multiple nuclear polyhedrosis viruses (AcMNPV) have recently been shown to transduce mammalian cells in vitro. Since baculoviruses offer many advantages over viruses currently used in gene therapy, we have tested them for in vivo gene transfer by constructing a baculovirus bearing a nuclear targeted beta-galactosidase marker gene (LacZ) under a CMV promoter. Both rabbit aortic smooth muscle cells (RAASMC) and human ECV-304 cells were susceptible to LacZ-baculovirus transduction. Transgene expression was evaluated in vivo by applying 1 x 10(9) p.f.u. of LacZ-baculoviruses or LacZ-adenoviruses in a silastic collar placed around rabbit carotid arteries in the…

MalevirusesGenetic enhancementTransgeneGenetic VectorsGene ExpressionBiologyTransfectionMarker geneMuscle Smooth VascularIn vivoGene expressionGeneticsAnimalsHumansMolecular BiologyReporter geneReverse Transcriptase Polymerase Chain ReactionGenetic transferGenetic TherapyTransfectionbeta-GalactosidaseMolecular biologyCarotid ArteriesMolecular MedicineRabbitsBaculoviridaeGene Therapy
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Non-eosinophilic Airway Hyper-reactivity in Mice, Induced by IFN-γProducing CD4+and CD8+Lung T cells, is Responsive to Steroid Treatment

2014

Non-eosinophilic asthma is characterized by infiltration of neutrophils into the lung and variable responsiveness to glucocorticoids. The pathophysiological mechanisms have not been characterized in detail. Here, we present an experimental asthma model in mice associated with non-eosinophilic airway inflammation and airway hyper-responsiveness (AHR). For this, BALB/c mice were sensitized by biolistic DNA immunization with a plasmid encoding the model antigen β-galactosidase (pFascin-βGal mice). For comparison, eosinophilic airway inflammation was induced by subcutaneous injection of βGal protein (βGal mice). Intranasal challenge of mice in both groups induced AHR to a comparable extent as w…

NeutrophilsImmunologyInflammationBiologyLymphocyte ActivationDexamethasoneLymphocyte DepletionInterferon-gammaMiceTh2 CellsAntigenmedicineAnimalsLungDexamethasoneMice Inbred BALB CLungDNAGeneral MedicineBiolisticsTh1 Cellsrespiratory systembeta-Galactosidasemedicine.diseaseAsthmaNeutrophiliarespiratory tract diseasesEosinophilsDisease Models Animalmedicine.anatomical_structureNeutrophil InfiltrationImmunologyTh17 CellsFemaleGoblet Cellsmedicine.symptomBronchoalveolar Lavage FluidInfiltration (medical)CD8GlucocorticoidT-Lymphocytes Cytotoxicmedicine.drugScandinavian Journal of Immunology
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Clinical heterogeneity in infantile galactosialidosis

1987

A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of alpha-neuraminidase and beta-galactosidase. The patient's clinical features are compared with the few cases so far described in the liter…

Pathologymedicine.medical_specialtyUrinary systemNeuraminidaseOligosaccharidesLarge kidneysKidneyLactose IntoleranceJoint mobilityCorneal cloudingClinical heterogeneityHumansMedicinePathologicalUltrasonographybusiness.industryMyocardiumInfantFibroblastsbeta-Galactosidasemedicine.diseaseGalactosidasesPediatrics Perinatology and Child HealthFemalebusinessGalactosialidosisEuropean Journal of Pediatrics
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Regulation of aerobic and anaerobic D-malate metabolism of Escherichia coli by the LysR-type regulator DmlR (YeaT).

2010

ABSTRACT Escherichia coli K-12 is able to grow under aerobic conditions on d -malate using DctA for d -malate uptake and the d -malate dehydrogenase DmlA (formerly YeaU) for converting d -malate to pyruvate. Induction of dmlA encoding DmlA required an intact dmlR (formerly yeaT ) gene, which encodes DmlR, a LysR-type transcriptional regulator. Induction of dmlA by DmlR required the presence of d -malate or l - or meso -tartrate, but only d -malate supported aerobic growth. The regulator of general C 4 -dicarboxylate metabolism (DcuS-DcuR two-component system) had some effect on dmlA expression. The anaerobic l -tartrate regulator TtdR or the oxygen sensors ArcB-ArcA and FNR did not have a m…

Physiology and MetabolismRegulatorMalatesDehydrogenasemedicine.disease_causeMicrobiologyMalate dehydrogenaseMicrobiologyMalate DehydrogenasemedicineAnaerobiosisMolecular BiologyEscherichia coliTartratesChromatography High Pressure LiquidbiologyEscherichia coli K12Escherichia coli ProteinsMetabolismGene Expression Regulation Bacterialbiology.organism_classificationbeta-GalactosidaseAerobiosisBiochemistryMutationFermentationAnaerobic exerciseBacteriaJournal of bacteriology
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Divergent effects of biolistic gene transfer in a mouse model of allergic airway inflammation.

2007

Particle-mediated epidermal delivery (PMED) of allergen genes efficiently prevents systemic sensitization and suppresses specific immunoglobulin E synthesis. We investigated in a mouse model of allergic airway disease the effect of PMED on the elicitation of local inflammatory reactions in the lung. BALB/c mice were biolistically transfected with plasmids encoding beta-galactosidase (betaGal) as model allergen under control of the DC-targeting fascin promoter and the ubiquitously active cytomegalovirus promoter, respectively. Mice were challenged intranasally with betaGal-protein with or without intermediate sensitization with betaGal adsorbed to aluminiumhydroxide. Subsequently, local cyto…

Pulmonary and Respiratory Medicinemedicine.medical_treatmentClinical BiochemistryCytomegalovirusBiologymedicine.disease_causeDNA vaccinationInterferon-gammaMiceAllergenTh2 CellsmedicineRespiratory HypersensitivityAnimalsHumansPromoter Regions GeneticMolecular BiologyLungSensitizationCells CulturedInflammationMice Inbred BALB Cmedicine.diagnostic_testMicrofilament ProteinsGene Transfer TechniquesCell BiologyTransfectionDendritic Cellsrespiratory systemImmunoglobulin ETh1 Cellsmedicine.diseasebeta-Galactosidaserespiratory tract diseasesCellular infiltrationDisease Models Animalmedicine.anatomical_structureBronchoalveolar lavageCytokineNeutrophil InfiltrationImmunologyAntibody FormationFemaleEpidermisCarrier ProteinsBronchoalveolar Lavage FluidCD8T-Lymphocytes CytotoxicAmerican journal of respiratory cell and molecular biology
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Development of type-specific and cross-reactive serological probes for the minor capsid protein of human papillomavirus type 33.

1993

Human papillomavirus type 33 (HPV33) is associated with malignant tumors of the cervix. In an attempt to develop immunological probes for HPV33 infections, antisera against various bacterial fusion proteins carrying sequences of the minor capsid protein encoded by L2 were raised in animals. Antigenic determinants on the HPV33 L2 protein were identified by using truncated fusion proteins and were classified as type specific or cross-reactive with respect to HPV1, -8, -11, -16, and -18. Cross-reactive epitopes map to amino acids 98 to 107 or to amino acids 102 to 112 and 107 to 117, respectively, depending on the fusion protein used for immunization. Antibodies directed toward these epitopes …

Recombinant Fusion ProteinsImmunologyGuinea PigsMolecular Sequence DataPeptideBiologyMicrobiologyEpitopeStructure-Activity RelationshipCapsidAntigenSpecies SpecificityVirologyAnimalsAmino Acid SequenceStaphylococcal Protein APeptide sequenceAntigens ViralPapillomaviridaeGlutathione TransferaseSequence Deletionchemistry.chemical_classificationBase SequenceOncogene Proteins Viralbeta-GalactosidaseMolecular biologyFusion proteinAmino acidchemistryCapsidOligodeoxyribonucleotidesInsect Sciencebiology.proteinCapsid ProteinsRabbitsAntibodySequence AlignmentResearch ArticleJournal of virology
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Trx2p-dependent Regulation of Saccharomyces cerevisiae Oxidative Stress Response by the Skn7p Transcription Factor under Respiring Conditions

2013

The whole genome analysis has demonstrated that wine yeasts undergo changes in promoter regions and variations in gene copy number, which make them different to lab strains and help them better adapt to stressful conditions during winemaking, where oxidative stress plays a critical role. Since cytoplasmic thioredoxin II, a small protein with thiol-disulphide oxidoreductase activity, has been seen to perform important functions under biomass propagation conditions of wine yeasts, we studied the involvement of Trx2p in the molecular regulation of the oxidative stress transcriptional response on these strains. In this study, we analyzed the expression levels of several oxidative stress-related…

Saccharomyces cerevisiae ProteinsSaccharomyces cerevisiaeBlotting WesternMolecular Sequence Datalcsh:MedicineWineOxidative phosphorylationSaccharomyces cerevisiaemedicine.disease_causePolymerase Chain ReactionThioredoxinsGene Expression Regulation FungalGene expressionmedicineImmunoprecipitationPhosphorylationlcsh:ScienceTranscription factorHeat-shock responseDNA PrimersRegulation of gene expressionMultidisciplinarybiologyBase Sequencelcsh:RPromoterbiology.organism_classificationCatalasebeta-GalactosidaseYeastGene regulationDNA-Binding ProteinsOxidative StressBiochemistryOxidative stresslcsh:QGene expressionThioredoxinTranscription factorOxidative stressGene DeletionResearch ArticlePlasmidsTranscription FactorsPLoS ONE
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A microplate version of the SOS/umu-test for rapid detection of genotoxins and genotoxic potentials of environmental samples

1991

Abstract The umu-microtest is a miniaturized automated short-term test version proposed for screening of umuC-dependent mutagenic potentials of chemicals relevant to environmental pollution, river water and industrial waste water. The test is based on the SOS/umu-test and has been modified in order to allow extensive testing of environmental samples. Genetically engineered Salmonella typhimurium (TA1535/pSK1002) are incubated on a microplate rotor in a sloping position for 2 h with the test samples, followed by addition of fresh culture medium to reach a 10-fold dilution of the incubation medium. 2 h later, the activity of the β-galactosidase, which reflects umuC induction, is determined co…

Salmonella typhimuriumAzidesEnvironmental pollutionToxicologyRiver waterRapid detectionMicrobiologyIndustrial waste waterGeneticsSOS responseSOS Response GeneticsSodium AzideIncubationChromatographyMutagenicity TestsChemistryGenetically engineeredGene Expression Regulation BacterialHydrogen-Ion Concentrationbeta-GalactosidaseDilutionMutagenesisMicrosomes LiverWater Pollutants ChemicalEnvironmental MonitoringMutagensMutation Research/Environmental Mutagenesis and Related Subjects
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Evaluation of the SOS/umu-test post-treatment assay for the detection of genotoxic activities of pure compounds and complex environmental mixtures.

2000

This study presents an evaluation of the SOS/umu-test after introducing an additional dilution and incubation in the post-treatment assay. This treatment reduces the influence of coloured test compounds that otherwise affect the colorimetric determination of the beta-galactosidase activity and the bacterial growth measurement during the testing of complex environmental samples. The post-treatment assay significantly increased the beta-galactosidase activity and consequently the enzyme induction ratios at higher doses of model genotoxins 4-nitroquinoline-N-oxide, N-methyl-N'-nitro-N-nitrosoguanidine, 2-aminoanthracene, benzo(a)pyrene with low or no effect on the sensitivity of the test itsel…

Salmonella typhimuriumMethylnitronitrosoguanidineHealth Toxicology and MutagenesisSegmented filamentous bacteriaRecombinant Fusion ProteinsSOS/umu-test; post-treatment assay; S.typhimurium; SOS response; genotoxicity assay; filamentous bacteria; environmental pollutionEnvironmental pollutionDNA-Directed DNA PolymeraseBacterial growthBiologyMicrobiologyAmes testBacterial ProteinsGeneticsBenzo(a)pyreneFood scienceSOS responseSOS Response GeneticsIncubationAnthracenesDose-Response Relationship DrugMutagenicity TestsEscherichia coli Proteinsbiology.organism_classificationbeta-Galactosidase4-Nitroquinoline-1-oxideSOS chromotestEnvironmental PollutantsBacteriaCell DivisionMutagensMutation research
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