Search results for "Isoenzymes"

showing 10 items of 244 documents

Activation of the plant plasma membrane H+ -ATPase. Is there a direct interaction between lysophosphatidylcholine and the C-terminal part of the enzy…

1996

The antagonistic effects of the fungal toxin beticolin-1 and of L-alpha-lysophosphatidylcholine (lysoPC) were investigated on the plasma membrane H+-ATPase of the plant Arabidopsis thaliana (isoform 2) expressed in yeast, using both wild-type enzyme (AHA2) and C-terminal truncated enzyme (aha2delta92). Phosphohydrolytic activities of both enzymes were inhibited by beticolin-1, with very similar 50% inhibitory concentrations, indicating that the toxin action does not involve the C-terminal located autoinhibitory domain of the proton pump. Egg lysoPC, a compound that activates the H+-ATPase by a mechanism involving the C-terminal part of the protein, was found to be able to reverse the inhibi…

0106 biological sciencesATPaseArabidopsismedicine.disease_cause01 natural sciencesBiochemistrychemistry.chemical_compoundStructural BiologyArabidopsis thalianaComputingMilieux_MISCELLANEOUSchemistry.chemical_classification0303 health sciencesbiologyPlantsRecombinant ProteinsIsoenzymesBeticolinProton-Translocating ATPasesLysophosphatidylcholineMembraneBiochemistryPlasma membrane H+-ATPase activationGene isoformAutoinhibitory domainDetergentsBiophysicsSaccharomyces cerevisiae[SDV.BC]Life Sciences [q-bio]/Cellular BiologyHeterocyclic Compounds 4 or More RingsStructure-Activity Relationship03 medical and health sciencesGeneticsmedicine[SDV.BC] Life Sciences [q-bio]/Cellular BiologyMolecular Biology030304 developmental biologyBinding SitesToxinCell MembraneLysophosphatidylcholinesCell BiologyMycotoxinsbiology.organism_classificationYeastEnzyme Activationl-α-LysophosphatidylcholineEnzymechemistryLiposomesbiology.protein010606 plant biology & botany
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Molecular systematics in the acanthocephalan genus Echinorhynchus (sensu lato) in northern Europe

1994

SUMMARYNew biological species and high levels of inter- and intraspecific genetic divergence were discovered in an allozyme study of some North European members of the acanthocephalan genus Echinorhynchus (sensu lato), parasites of fish and malacostracan crustaceans. (i) A strong differentiation between the marine E. gadi and the fresh- and brackish-water E. salmonis (genetic identity I ≃ 0) supports a generic distinction between these taxa; however, the subdivision would not entirely concur with the concepts of Echinorhynchus (sensu stricto) and Metechinorhynchus suggested earlier. (ii) Samples of E. gadi from the Baltic, Norwegian and North Seas included three distinct, partially sympatri…

0106 biological sciencesSystematicsGenotypePopulationHelminthiasisZoologyFresh WaterBiology010603 evolutionary biology01 natural sciencesAcanthocephala030308 mycology & parasitologyFish Diseases03 medical and health sciencesGene FrequencySensuCrustaceaAnimalsSeawater14. Life underwatereducationAlleles0303 health scienceseducation.field_of_studyPolymorphism GeneticEcologyFishesGenetic Variationbiology.organism_classificationEuropeIsoenzymesGenetic divergencePhenotypeInfectious DiseasesMysisZoogeographySympatric speciationAnimal Science and ZoologyParasitologyTaxonomy (biology)Helminthiasis AnimalParasitology
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Selective Inhibition of Phosphodiesterases 4A, B, C and D Isoforms in Chronic Respiratory Diseases: Current and Future Evidences

2016

Chronic respiratory diseases affect millions of people every day. According to the World Health Organization estimates, ~235 million people suffer from asthma, ~64 million suffer from chronic obstructive pulmonary disease (COPD), and millions more suffer from allergic rhinitis around the world. In recent last years, the first phosphodiesterase 4 (PDE4) inhibitor, roflumilast, was approved as a treatment to reduce the risk of exacerbations in stable and severe COPD associated with chronic bronchitis and a history of exacerbations. PDE4 exists as four subtypes (A, B, C, and D) each with a capacity to degrade cAMP, a second messenger involved in inflammatory responses. PDE4 inhibitors inhibit …

0301 basic medicineChronic bronchitisPhosphodiesterase InhibitorsPharmacologyPulmonary Disease Chronic Obstructive03 medical and health sciencesPDE4BDrug DiscoverymedicineAnimalsHumansRespiratory systemRoflumilastAsthmaPharmacologyCOPDPhosphoric Diester Hydrolasesbusiness.industryPhosphodiesterasemedicine.diseaseIsoenzymesDiarrhea030104 developmental biologymedicine.symptombusinessmedicine.drugCurrent Pharmaceutical Design
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Unicellular ancestry and mechanisms of diversification of Goodpasture antigen-binding protein.

2018

The emergence of the basement membrane (BM), a specialized form of extracellular matrix, was essential in the unicellular transition to multicellularity. However, the mechanism is unknown. Goodpasture antigen–binding protein (GPBP), a BM protein, was uniquely poised to play diverse roles in this transition owing to its multiple isoforms (GPBP-1, -2, and -3) with varied intracellular and extracellular functions (ceramide trafficker and protein kinase). We sought to determine the evolutionary origin of GPBP isoforms. Our findings reveal the presence of GPBP in unicellular protists, with GPBP-2 as the most ancient isoform. In vertebrates, GPBP-1 assumed extracellular function that is further e…

0301 basic medicineGene isoformBasement membrane030102 biochemistry & molecular biologyCell BiologyBiologyProtein Serine-Threonine KinasesBiochemistryBasement MembraneCell biologyExtracellular matrixEvolution MolecularIsoenzymes03 medical and health sciencesMulticellular organism030104 developmental biologymedicine.anatomical_structuremedicineExtracellularHumansEditors' PicksProtein kinase AMolecular BiologyFunction (biology)IntracellularThe Journal of biological chemistry
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Apoptosis induced by a HIPK2 full-length-specific siRNA is due to off-target effects rather than prevalence of HIPK2-Δe8 isoform

2017

Small interfering RNAs (siRNAs) are widely used to study gene function and extensively exploited for their potential therapeutic applications. HIPK2 is an evolutionary conserved kinase that binds and phosphorylates several proteins directly or indirectly related to apoptosis. Recently, an alternatively spliced isoform skipping 81 nucleotides of exon 8 (Hipk2-Δe8) has been described. Selective depletion of Hipk2 full-length (Hipk2-FL) with a specific siRNA that spares the Hipk2-Δe8 isoform has been shown to strongly induce apoptosis, suggesting an unpredicted dominant-negative effect of Hipk2-FL over the Δe8 isoform. From this observation, we sought to take advantage and assessed the therape…

0301 basic medicineGene isoformMaleProgrammed cell deathSmall interfering RNACell SurvivalBlotting WesternMice Nudecolorectal cancerApoptosisHIPK2BiologyProtein Serine-Threonine KinasesGene Expression Regulation Enzymologic03 medical and health sciencesExonRNA interferenceCell Line TumorAnimalsHumansViability assayoff-target effectCell Line TransformedSettore MED/04 - Patologia GeneraleKinaseReverse Transcriptase Polymerase Chain ReactionAlternative splicingalternative splicing isoformoff-target effectsExonsHCT116 CellsMolecular biologyXenograft Model Antitumor AssaysCell biologyGene Expression Regulation NeoplasticIsoenzymesAlternative Splicing030104 developmental biologyRNAi TherapeuticsOncologyalternative splicing isoformsNeoplastic Stem CellsRNA InterferenceHIPK2; alternative splicing isoforms; colorectal cancer; off-target effects; siRNA therapeutic applicationsiRNA therapeutic applicationCarrier ProteinsColorectal NeoplasmsGene DeletionResearch Paper
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Genetics and Gene Therapy of Anderson-Fabry Disease.

2018

Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay …

0301 basic medicineGenetic enhancementChaperone therapyDisease030204 cardiovascular system & hematologyBioinformaticsMice0302 clinical medicineAlpha galactosidase ADrug DiscoveryGenetics (clinical)KidneybiologyTrihexosylceramidesGenetic disorderEnzyme replacement therapyDependovirusRecombinant ProteinsAlpha galactosidase A; Chaperone therapy; Enzyme replacement therapy; Fabry disease; Gene therapy; Viral vectors; Molecular Medicine; Molecular Biology; Genetics; Drug Discovery3003 Pharmaceutical Science; Genetics (clinical)Isoenzymesmedicine.anatomical_structureMolecular Medicinemedicine.symptomGenetic Vectors03 medical and health sciencesGene therapyViral vectorRare DiseasesGeneticGeneticsmedicineAnimalsHumansEnzyme Replacement TherapyMolecular BiologyAlpha-galactosidasebusiness.industryDrug Discovery3003 Pharmaceutical ScienceOrgan dysfunctionGenetic Therapymedicine.diseaseFabry diseaseDisease Models Animal030104 developmental biologyalpha-GalactosidaseMutationbiology.proteinFabry DiseasebusinessBiomarkersCurrent gene therapy
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Toxicological implications of enzymatic control of reactive metabolites.

1990

Many foreign compounds are transformed into reactive metabolites, which may produce genotoxic effects by chemically altering critical biomolecules. Reactive metabolites are under the control of activating, inactivating and precursor sequestering enzymes. Such enzymes are under the long-term control of induction and repression, as well as the short-term control of post-translational modification and low molecular weight activators or inhibitors. In addition, the efficiency of these enzyme systems in preventing reactive metabolite-mediated toxicity is directed by their subcellular compartmentalization and isoenzymic multiplicity. Extrapolation from toxicological test systems to the human req…

0301 basic medicineHealth Toxicology and MutagenesisMetaboliteMolecular Sequence DataMutagenBiologyToxicologymedicine.disease_causeGene Expression Regulation Enzymologic03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCytosolEthers CyclicMicrosomesmedicineHumansPsychological repressionCarcinogenGlutathione Transferasechemistry.chemical_classificationEpoxide Hydrolases030102 biochemistry & molecular biologyBase SequenceBiomoleculeGeneral MedicineIsoenzymesEnzymeBiochemistrychemistry030220 oncology & carcinogenesisToxicityEpoxy CompoundsXenobioticHumanexperimental toxicology
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Regulation of PDE5 expression in human aorta and thoracic aortic aneurysms

2019

AbstractAneurysms and dissections affecting thoracic aorta are associated with smooth muscle cell (SMC) dysfunction. NO/cGMP signaling pathway in smooth muscle cells has been shown to be affected in sporadic thoracic aortic aneurysms. We analyzed the mRNA levels of PDE5, a cGMP-hydrolyzing enzyme highly expressed in aortic SMCs, that regulates arterious vascular tone by lowering cGMP levels. We found that aortic tissue obtained from Marfan, tricuspid and bicuspid thoracic aneurysms expressed lower levels of PDE5 mRNA compared to control aortas. In particular, we found that affected aortas showed lower levels of all the PDE5A isoforms, compared to control aortas. Transfection of vascular SMC…

0301 basic medicineMaleCelllcsh:MedicineStimulationMuscle Smooth VascularAortic aneurysmchemistry.chemical_compound0302 clinical medicinePDE5 expression human aorta and thoracic aortic aneurysmsMyocyteThoracic aortalcsh:ScienceSettore BIO/16MultidisciplinaryTransfectionMiddle AgedIsoenzymesmedicine.anatomical_structurecardiovascular systemFemaleGene isoformAdultmedicine.medical_specialtyMyocytes Smooth MuscleArticleGene Expression Regulation EnzymologicNitric oxide03 medical and health sciencesmedicine.arteryInternal medicinemedicineHumansSettore MED/05 - Patologia ClinicaAgedCyclic Nucleotide Phosphodiesterases Type 5Aortic Aneurysm Thoracicbusiness.industrylcsh:Rmedicine.disease030104 developmental biologyEndocrinologychemistryRisk factorsthoracic aortic aneurysmslcsh:QAngiogenesisPDE5business030217 neurology & neurosurgery
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Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.

2021

International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi p…

0301 basic medicineMaleDelphi TechniqueEndocrinology Diabetes and Metabolism[SDV]Life Sciences [q-bio]Delphi methodDisease030105 genetics & heredityKidneyBiochemistry0302 clinical medicineEndocrinologyClinical outcomesClinical Trials as TopicGlobosidesTrihexosylceramidesMiddle Aged3. Good healthClinical trialIsoenzymesTreatment OutcomeInclusion and exclusion criteriaSecondary Outcome MeasureFemaleAdultmedicine.medical_specialtyConsensusLysosomal storage disorders03 medical and health sciencesQuality of life (healthcare)Inherited metabolic disordersGeneticsmedicineHumansEnzyme Replacement TherapyIntensive care medicineMolecular BiologyFabry diseaseSphingolipidsbusiness.industryClinical study designmedicine.diseaseFabry diseaseClinical trialDelphi consensusalpha-GalactosidaseQuality of LifeFabry DiseaseGlycolipidsbusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

2019

Abstract Background Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving to vital organ complications during adulthood. We assessed the ability of 2 low-dose agalsidase beta regimens to lower skin, plasma, and urine globotriaosylceramide (GL-3) levels, and influence clinical manifestations in male pediatric Fabry patients. Methods In this multicenter, open-label, parallel-group, phase 3b study, male patients aged 5–18 years were randomized to receive agalsidase beta at 0.5 mg/kg 2-weekly (n = 16) or 1.0 mg/kg 4-w…

0301 basic medicineMalemedicine.medical_specialtyAbdominal painAdolescentEndocrinology Diabetes and MetabolismGlobotriaosylceramideUrologyRenal function030105 genetics & heredityBiochemistrylaw.invention03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyRandomized controlled triallawBiopsyGeneticsmedicineHumansEnzyme Replacement TherapyChildMolecular BiologySkinKidneymedicine.diagnostic_testDose-Response Relationship Drugbusiness.industryTrihexosylceramidesEnzyme replacement therapymedicine.diseaseFabry diseaseIsoenzymesmedicine.anatomical_structureTreatment OutcomechemistryChild Preschoolalpha-GalactosidaseFabry Diseasemedicine.symptombusiness030217 neurology & neurosurgeryMolecular genetics and metabolism
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