Search results for "DASE"

showing 10 items of 1891 documents

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2012

Abstract Background Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of a lysosomal hydrolase, the enzyme α-galactosidase A (GLA). This inactivation is responsible for the storage of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. The incidence of disease is estimated at 1:40,000 in the general population, although neonatal screening initiatives have found an unexpectedly high prevalence of genetic alterations, up to 1:3,100, in newborns in Italy, and have identified a surprisingly high frequency of newborn males with genetic alterations (about 1:1,500) in Taiwan. Case presentation We des…

lcsh:Diseases of the circulatory (Cardiovascular) systemPathologyα-galactosidase AAnderson-Fabry mutationBiopsyDNA Mutational AnalysisCase Reportmedicine.disease_causeGlobotriaosylceramide0302 clinical medicineSettore BIO/13 - Biologia ApplicataPromoter Regions Genetic0303 health sciencesMutationeducation.field_of_studymedicine.diagnostic_testbiologyMetabolic disorderMagnetic Resonance Imaging3. Good healthPhenotypeCardiovascular DiseasesDisease ProgressionFemaleKidney DiseasesRenal biopsyCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyPopulation03 medical and health sciencesPredictive Value of TestsBiopsymedicineHumansHigh resolution meltingGenetic Predisposition to Diseaseeducation030304 developmental biologyFabry diseaseAlpha-galactosidasebusiness.industrymedicine.diseaseFabry diseaseIntronslcsh:RC666-701alpha-GalactosidaseMutationGLAbiology.proteinbusiness030217 neurology & neurosurgeryKidney disease
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RUNX3 and T-Bet in Immunopathogenesis of Ankylosing Spondylitis—Novel Targets for Therapy?

2019

Susceptibility to ankylosing spondylitis (AS) is polygenic with more than 100 genes identified to date. These include HLA-B27 and the aminopeptidases (ERAP1, ERAP2, and LNPEPS), which are involved in antigen processing and presentation to T-cells, and several genes (IL23R, IL6R, STAT3, JAK2, IL1R1/2, IL12B, and IL7R) involved in IL23 driven pathways of inflammation. AS is also strongly associated with polymorphisms in two transcription factors, RUNX3 and T-bet (encoded by TBX21), which are important in T-cell development and function. The influence of these genes on the pathogenesis of AS and their potential for identifying drug targets is discussed here.

lcsh:Immunologic diseases. Allergy0301 basic medicineTBX21Mini ReviewImmunologyBiologyCD8-Positive T-Lymphocytesmedicine.disease_causeAminopeptidasesInterleukin-23Polymorphism Single NucleotideAutoimmunity03 medical and health sciences0302 clinical medicineankylosing spondylitisInterleukin 23medicineImmunology and AllergyHumansImmunologic FactorsSpondylitis AnkylosingMolecular Targeted TherapyInterleukin-7 receptorTranscription factorHLA-B27 AntigenAnkylosing spondylitistherapyAntigen processingautoimmunityReceptors Interleukinmedicine.disease3. Good healthKiller Cells Natural030104 developmental biologyCore Binding Factor Alpha 3 SubunitGene Expression RegulationinflammationImmunologylcsh:RC581-607T-Box Domain ProteinsFunctional genomicsfunctional genomics030215 immunologyFrontiers in Immunology
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The NG2 Proteoglycan Protects Oligodendrocyte Precursor Cells against Oxidative Stress via Interaction with OMI/HtrA2.

2015

The NG2 proteoglycan is characteristically expressed by oligodendrocyte progenitor cells (OPC) and also by aggressive brain tumours highly resistant to chemo- and radiation therapy. Oligodendrocyte-lineage cells are particularly sensitive to stress resulting in cell death in white matter after hypoxic or ischemic insults of premature infants and destruction of OPC in some types of Multiple Sclerosis lesions. Here we show that the NG2 proteoglycan binds OMI/HtrA2, a mitochondrial serine protease which is released from damaged mitochondria into the cytosol in response to stress. In the cytosol, OMI/HtrA2 initiates apoptosis by proteolytic degradation of anti-apoptotic factors. OPC in which NG…

lcsh:MedicineApoptosisdrug effects [Cytosol]HTRA2 protein humangenetics [RNA Small Interfering]genetics [Serine Endopeptidases]genetics [Glioblastoma]570 Life sciencespathology [Glioblastoma]MiceCytosolCerebellumpathology [Cerebellum]RNA Small Interferinglcsh:Sciencemetabolism [Antigens]Mice Knockoutchondroitin sulfate proteoglycan 4metabolism [Proteoglycans]Brain NeoplasmsSerine Endopeptidasesdrug effects [Mitochondria]metabolism [Cerebellum]High-Temperature Requirement A Serine Peptidase 2Mitochondriametabolism [Brain Neoplasms]Gene Expression Regulation Neoplasticpharmacology [Antibodies Neutralizing]genetics [Mitochondrial Proteins]Proteoglycans570 BiowissenschaftenResearch ArticleProtein BindingSignal Transductionpathology [Brain Neoplasms]Primary Cell Culturedrug effects [Cerebellum]drug effects [Apoptosis]metabolism [Mitochondrial Proteins]Mitochondrial Proteinsantagonists & inhibitors [Proteoglycans]pharmacology [Hydrogen Peroxide]genetics [Antigens]Cell Line Tumormetabolism [Serine Endopeptidases]AnimalsHumansddc:610metabolism [RNA Small Interfering]Antigenslcsh:RHtra2 protein mouseHydrogen Peroxidemetabolism [Mitochondria]Antibodies Neutralizinggenetics [Proteoglycans]genetics [Brain Neoplasms]Mice Inbred C57BLOxidative Stressnervous systemlcsh:Qmetabolism [Cytosol]Glioblastomametabolism [Glioblastoma]
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Una metafísica como remedio a la 'desolación total de la situación filosófica' de los años 1920 (Martin Heidegger, Max Scheler)

2015

En este artículo se muestra como el ¿giro metafísico¿ que tomó el pensamiento de Martin Heidegger después de la publicación de Ser y tiempo (1927) puede explicarse a partir de la interpretación errónea que se hizo de esa obra como contribución a la antropología filosófica. Retratando las primeras reseñas y críticas, nos acercamos a los textos del final de los años 1920 en los que Heidegger reinterpreta su ontología fundamental en términos de una ¿metafísica del Dasein¿ que pretende alejarse del planteamiento filosófico-antropológico. Terminaremos haciendo hincapié en el papel que desempeñó Max Scheler en dicha ¿conversión¿ transitoria a la metafísica. In this paper, we show how the"metaphys…

lcsh:Philosophy (General)Martin Heidegger metafísica del Dasein Ser y tiempo antropología filosófica Max Schelerlcsh:Blcsh:Philosophy. Psychology. Religionlcsh:B1-5802Metafísica
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Gender-related variations in hemolymph parameters of Carabus lefebvrei (Coleoptera: Carabidae): HPLC analysis and phenoloxidase activity

2017

We characterized the enzymatic activity of basal and total phenoloxidase and HLPC and SDS- PAGE profiles in hemolymph of Carabus lefebvrei males and females at different reproductive status. The phenoloxidase activity was activated by trypsin and inhibited by phenoloxidase activity specific inhibitor phenylthiourea. Our results demonstrated that both in males and females, there were no significant differences in the basal phenoloxidase activity between reproductive and virgin beetles, while the total phenoloxidase activity increased significantly in virgin specimens. Thus, resources seem to be invested to increase the humoral response in pre-reproductive phase forming a barrier against path…

life historyanimal structuresecological immunology; life history; HPLC; phenoloxidase; sexual dimorphism; SDS-PAGEphenoloxidaseecological immunologyEcological immunologyEcological immunology; HPLC; Life history; Phenoloxidase; SDS-PAGE; Sexual dimorphism; Animal Science and ZoologySexual dimorphismlcsh:Biology (General)sexual dimorphismPhenoloxidaseAnimal Science and ZoologyHPLCLife historylcsh:QH301-705.5SDS-PAGE
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Dissimilar Regulation of Antimicrobial Proteins in the Midgut of Spodoptera exigua Larvae Challenged with Bacillus thuringiensis Toxins or Baculoviru…

2015

Antimicrobial peptides (AMPs) and lysozymes are the main effectors of the insect immune system, and they are involved in both local and systemic responses. Among local responses, midgut immune reaction plays an important role in fighting pathogens that reach the insect body through the oral route, as do many microorganisms used in pest control. Under this point of view, understanding how insects defend themselves locally during the first phases of infections caused by food-borne pathogens is important to further improve microbial control strategies. In the present study, we analyzed the transcriptional response of AMPs and lysozymes in the midgut of Spodoptera exigua (Lepidoptera: Noctuidae…

media_common.quotation_subjectAntimicrobial peptidesMolecular Sequence DataBacillus thuringiensislcsh:MedicineInsectSpodopteraSpodopteraMicrobiologyHemolysin ProteinsBacterial ProteinsBacillus thuringiensisExiguaHemolymphAnimalsAmino Acid SequencePest Control Biologicallcsh:SciencePhylogenymedia_commonMultidisciplinarybiologyBacillus thuringiensis ToxinsSequence Homology Amino AcidMonophenol Monooxygenasefungilcsh:RMidgutbiology.organism_classificationEndotoxinsSettore AGR/11 - ENTOMOLOGIA GENERALE E APPLICATALarvaNoctuidaeInsect ProteinsMuramidaselcsh:QBaculoviridaeDigestive SystemAntimicrobial Cationic PeptidesResearch ArticlePLoS ONE
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Morelloflavone, a novel biflavonoid inhibitor of human secretory phospholipase A2 with anti-inflammatory activity

1997

Abstract The flavanonylflavone morelloflavone inhibited secretory phospholipase A 2 (PLA 2 ) in vitro , with a high potency on the human recombinant synovial and bee venom enzymes ( IC 50 = 0.9 and 0.6 μM, respectively). The inhibition was apparently irreversible. In contrast, the compound was inactive on cytosolic PLA 2 activity from human monocytes. Morelloflavone scavenged reactive oxygen species generated by human neutrophils ( IC 50 = 2.7 and 1.8 μM for luminol and lucigenin, respectively) but did not modify cellular responses such as degranulation or eicosanoid release. This biflavonoid exerted anti-inflammatory effects in animal models, with a potent inhibition of 12-O-tetradecanoylp…

medicine.drug_classAnti-Inflammatory AgentsPharmacologyBiochemistryPhospholipases AAnti-inflammatoryMicePhospholipase A2medicineAnimalsBiflavonoidsHumansEnzyme InhibitorsFlavonoidsPharmacologychemistry.chemical_classificationPhospholipase ADose-Response Relationship DrugbiologyChemistryDegranulationBiological activityBiflavonoidPhospholipases A2EicosanoidBiochemistryMyeloperoxidaseLuminescent Measurementsbiology.proteinFemaleBiochemical Pharmacology
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Modular Solid-Phase Synthesis of Antiprotozoal Barnesin Derivatives

2020

Here, we applied and optimized a solid support (SP)-based Horner-Wadsworth-Emmons reagent to prepare SP-bound vinylogous amino acids. Subsequent SP-based peptide synthesis, global deprotection, and chemical modifications yielded 14 lipodipeptides carrying vinylogous amino acids, including the natural product barnesin A (1). Biological evaluation revealed that several synthesized derivatives show micromolar to nanomolar inhibitory activity against papain-like cysteine proteases, human cathepsin L, and rhodesain.

medicine.drug_classAntiprotozoal AgentsChemistry Techniques Synthetic010402 general chemistry01 natural sciencesBiochemistrychemistry.chemical_compoundSolid-phase synthesisPeptide synthesismedicineSolid-Phase Synthesis TechniquesHumansPhysical and Theoretical ChemistrySolid-Phase Synthesis Techniqueschemistry.chemical_classificationNatural productMolecular Structure010405 organic chemistryOrganic ChemistryCombinatorial chemistry0104 chemical sciencesAmino acidCysteine EndopeptidaseschemistryReagentAntiprotozoalCysteineOrganic Letters
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Preparation of a dansylated fibrate, a new fluorescent tool to study peroxisome proliferation. Effect on hepatic-derived cell lines.

1997

The synthesis of a dansylated fibrate (DNS-X) has been performed in order to identify the cellular affinity sites of peroxisome proliferators and to establish the subcellular localization of such molecules. DNS-X has been obtained by coupling the dansy1 chloride with the amine resulting from the bezafibrate alkaline hydrolysis. The purified DNS-X has been further characterized by spectrum analysis (UV-Vis, fluorescence, [1H]/[13C]-NMR and mass). At 250 microM and incubated for 48 h with the rat hepatic derived cells (Fao cells), DNS-X stimulates 12-fold the palmitoyl-CoA oxidase, a peroxisome proliferation marker enzyme. This increase is comparable to the one obtained with well known peroxi…

medicine.drug_classPeroxisome ProliferationFibrateBiochemistryMicrobodiesCell Linechemistry.chemical_compoundmedicineTumor Cells CulturedAnimalsHumanschemistry.chemical_classificationDansyl CompoundsOxidase testBezafibratefungiDansyl chlorideGeneral MedicineSubcellular localizationRatsEnzymeBiochemistrychemistryLiverCiprofibrateBezafibratemedicine.drugBiochimie
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Demonstration of P29, an oestrogen receptor-associated tumor marker, in human term placenta.

1991

A Mr29,000 serine phosphoprotein (P29) related to oestradiol receptor was studied in human term placenta with the use of a specific monoclonal antibody (D5). D5 was used with two different methods, immunohistochemistry and immunoradiometry. For immunohistochemistry, an indirect immunoperoxidase method was chosen to detect P29 in methacarn-fixed, wax-embedded sections. P29 was mostly confined to the syncytiotrophoblast surrounding placental villi, staining being positive in both cytoplasm and nuclei. The stroma of villi was negative. Content of P29 was uniformly high in crude placental cytosol, as measured by immunoradiometry assays. Specificity of D5 against P29 in placenta was tested by an…

medicine.drug_classPlacentaBiologyMonoclonal antibodySyncytiotrophoblastPregnancyPlacentamedicineBiomarkers TumorSerineHumansHeat-Shock ProteinsImmunoperoxidaseObstetrics and GynecologyAntibodies MonoclonalPhosphoproteinsMolecular biologyImmunohistochemistryStainingTrophoblastsmedicine.anatomical_structureReproductive MedicineReceptors EstrogenCytoplasmPhosphoproteinembryonic structuresImmunohistochemistryFemaleImmunoradiometric AssayDevelopmental BiologyPlacenta
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