Search results for "Hydrolase"

showing 10 items of 531 documents

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

2017

Background Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily. Objective The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian pop…

0301 basic medicineMaleSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineChildN-Glycosyl HydrolasesSicilyGeneticsAged 80 and overeducation.field_of_studyNutrition and DieteticsAllele frequencyHomozygoteHigh-Throughput Nucleotide SequencingAutosomal recessive hypercholesterolemiaMiddle AgedAutosomal Recessive HypercholesterolemiaSettore MED/26 - NeurologiaFemaleCardiology and Cardiovascular MedicineAdultAdolescentGenotypePopulationHypercholesterolemiaBiologyDNA sequencing03 medical and health sciencesYoung AdultARH1Internal MedicinemedicineHumansAlleleeducationGenotypingAllele frequencyAllelesAdaptor Proteins Signal TransducingAgedHeterozygous carrierSequence Analysis DNAmedicine.diseaseNGS-based gene panel030104 developmental biologyGenetic epidemiologyReceptors LDLJournal of clinical lipidology
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Repurposing a Library of Human Cathepsin L Ligands: Identification of Macrocyclic Lactams as Potent Rhodesain and Trypanosoma brucei Inhibitors.

2018

Rhodesain (RD) is a parasitic, human cathepsin L (hCatL) like cysteine protease produced by Trypanosoma brucei (T. b.) species and a potential drug target for the treatment of human African trypanosomiasis (HAT). A library of hCatL inhibitors was screened, and macrocyclic lactams were identified as potent RD inhibitors (Ki < 10 nM), preventing the cell-growth of Trypanosoma brucei rhodesiense (IC50 < 400 nM). SARs addressing the S2 and S3 pockets of RD were established. Three cocrystal structures with RD revealed a noncovalent binding mode of this ligand class due to oxidation of the catalytic Cys25 to a sulfenic acid (Cys–SOH) during crystallization. The P-glycoprotein efflux ratio was mea…

0301 basic medicineMaleTrypanosoma brucei rhodesienseSwineCathepsin LLactams MacrocyclicTrypanosoma bruceiCysteine Proteinase InhibitorsLigands01 natural sciencesCell LineCathepsin L03 medical and health sciencesStructure-Activity RelationshipIn vivoparasitic diseasesDrug DiscoveryHydrolaseAnimalsHumansIC50Binding SitesbiologyMolecular Structure010405 organic chemistryChemistryDrug RepositioningTrypanosoma brucei rhodesiensebiology.organism_classificationCysteine proteaseMolecular biologyTrypanocidal Agents0104 chemical sciencesRatsMice Inbred C57BLCysteine Endopeptidases030104 developmental biologyBlood-Brain Barrierbiology.proteinMolecular MedicineEffluxJournal of medicinal chemistry
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Hemisphere-dependent endocannabinoid system activity in prefrontal cortex and hippocampus of the Flinders Sensitive Line rodent model of depression

2019

Altered endocannabinoid (eCB) signaling is suggested as an important contributor to the pathophysiology of depression. To further elucidate this, we conducted a study using a genetic rat model of depression, the Flinders Sensitive Line (FSL), and their controls, the Flinders Resistant Line (FRL) rats. Plasma, right and left prefrontal cortex, and hippocampus were isolated from FSL and FRL rats. We analyzed each region for the eCB anandamide (AEA) and 2-arachidonoylglycerol (2-AG) levels by liquid chromatography/multiple reaction monitoring (LC/MRM), mRNA and protein levels of the cannabinoid type 1 receptor (CB1R), fatty acid amide hydrolase (FAAH) and monoacyl glycerol lipase (MAGL) by rea…

0301 basic medicineMalemedicine.medical_specialtymedicine.medical_treatmentHippocampusPrefrontal CortexHippocampusPrefrontal cortex03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compound0302 clinical medicineSpecies SpecificityFatty acid amide hydrolaseInternal medicinemedicineAnimalsReceptorPrefrontal cortexCerebrumEndocannabinoidFlinders sensitive lineChemistryDepressionCell BiologyAnandamideEndocannabinoid systemRatsMonoacylglycerol lipase030104 developmental biologyEndocrinologylipids (amino acids peptides and proteins)CannabinoidRats Transgenic030217 neurology & neurosurgeryEndocannabinoids
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Proteins as Functional Units of Biocalcification – An Overview

2016

High-throughput approaches such as genomics, transcriptomics and proteomics have led to the discovery of a larger set of biomineralization genes than previously foreseen. These gene lists are often difficult to decode in light of the current models of calcification. Here we overview the proteins available in UniProt (Universal Protein Resource), that were identified directly in metazoan calcium carbonate mineralized structures or known to have direct key-functions in calcification processes. Functional annotation of the protein datasets using Gene Ontology reveals that functions like carbohydrate binding, structural and catalytic activities (e.g. hydrolase) are commonly represented across t…

0301 basic medicineMechanical EngineeringGenomicsComputational biologyBiologyBioinformaticsProteomicsTranscriptomeUniversal Protein Resource03 medical and health sciences030104 developmental biologyMechanics of MaterialsHydrolaseGeneral Materials ScienceUniProtGeneBiomineralizationKey Engineering Materials
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Does bevacizumab impact anti-EGFR therapy efficacy in metastatic colorectal cancer?

2016

IF 5.008; International audience; Anti-EGFR therapy and antiangiogenic therapies are used alone or in combination with chemotherapies to improve survival in metastatic colorectal cancer. However, it is unknown whether pretreatment with antiangiogenic therapy could impact on the efficacy of anti-EGFR therapy. We selected one hundred and twenty eight patients diagnosed with advanced colorectal cancer with a KRAS and NRAS unmutated tumor. These patients were treated with cetuximab or panitumumab alone or with chemotherapy as second or third-line. Univariate and multivariate Cox model analysis were performed to estimate the effect of a previous bevacizumab regimen on progression free survival a…

0301 basic medicineNeuroblastoma RAS viral oncogene homologOncologyMaleVascular Endothelial Growth Factor AColorectal cancerCetuximabAngiogenesis Inhibitorsmedicine.disease_causeTrialGTP PhosphohydrolasesRas mutations[ SDV.CAN ] Life Sciences [q-bio]/Cancer0302 clinical medicineAntineoplastic Combined Chemotherapy ProtocolsDrug InteractionsAged 80 and overCetuximabPanitumumabAntibodies MonoclonalMiddle Aged3. Good healthErbB ReceptorsOncology030220 oncology & carcinogenesisFemaleKRASColorectal Neoplasms1st-Line treatmentmedicine.drugResearch PaperAdultSTAT3 Transcription Factormedicine.medical_specialtyBevacizumabAntineoplastic Agents[SDV.CAN]Life Sciences [q-bio]/Cancer[SDV.BC]Life Sciences [q-bio]/Cellular BiologybevacizumabIrinotecanDisease-Free SurvivalTumor angiogenesisProto-Oncogene Proteins p21(ras)03 medical and health sciencesVEGFRInternal medicineCell Line TumormedicinePanitumumabHumansEndothelial growth-FactorChemotherapyProgression-free survivalAgedbusiness.industry[ SDV.BC ] Life Sciences [q-bio]/Cellular BiologyMembrane Proteinsmetastatic colon cancerStat-3medicine.diseaseVascular Endothelial Growth Factor Receptor-2IrinotecanRandomized phase-III030104 developmental biologyanti-EGFR therapyFactor receptorCaco-2 Cellsbusiness
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A Stat6/Pten Axis Links Regulatory T Cells with Adipose Tissue Function

2017

Obesity and type 2 diabetes are associated with metabolic defects and adipose tissue inflammation. Foxp3(+) regulatory T cells (Tregs) control tissue homeostasis by counteracting local inflammation. However, if and how T cells interlink environmental influences with adipocyte function remains unknown. Here, we report that enhancing sympathetic tone by cold exposure, beta3-adrenergic receptor (ADRB3) stimulation or a short-term high-calorie diet enhances Treg induction in vitro and in vivo. CD4(+) T cell proteomes revealed higher expression of Foxp3 regulatory networks in response to cold or ADRB3 stimulation in vivo reflecting Treg induction. Specifically, Ragulator-interacting protein C17o…

0301 basic medicinePTENProteomePhysiologyAdipose tissueStimulationmTORC1Diet induced thermogenesisBorcs6 ; C17orf59 ; Foxp3 ; Pten ; Stat6 ; T Cells ; Tregs ; Adipose Tissue Function ; Cold Exposure ; Metabolic Function ; Metabolism ; Regulatory T cellsT-Lymphocytes Regulatorychemistry.chemical_compound0302 clinical medicineAdipose Tissue BrownAdipocyteUncoupling Protein 1Tissue homeostasisSTAT6ddc:616Mice Inbred BALB CFOXP3Forkhead Transcription Factorshemic and immune systemsRegulatory T cellsCell biologyCold TemperatureFoxp3FemaleMetabolic functionmedicine.symptomSignal TransductionBorcs6Adipose Tissue WhiteCold exposureT cellsTregschemical and pharmacologic phenomenaInflammationBiologyArticle03 medical and health sciencesReceptors Adrenergic betaAdipose tissue functionmedicineAnimalsC17orf59Molecular BiologyPTEN PhosphohydrolaseCell BiologyMetabolism030104 developmental biologychemistryImmunologySTAT6 Transcription Factor030217 neurology & neurosurgeryCell Metabolism
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eIF5A facilitates translation termination globally and promotes the elongation of many non polyproline-specific tripeptide sequences

2017

Abstract eIF5A is an essential protein involved in protein synthesis, cell proliferation and animal development. High eIF5A expression is observed in many tumor types and has been linked to cancer metastasis. Recent studies have shown that eIF5A facilitates the translation elongation of stretches of consecutive prolines. Activated eIF5A binds to the empty E-site of stalled ribosomes, where it is thought to interact with the peptidyl-tRNA situated at the P-site. Here, we report a genome-wide analysis of ribosome stalling in Saccharomyces cerevisiae eIF5A depleted cells using 5Pseq. We confirm that, in the absence of eIF5A, ribosomes stall at proline stretches, and extend previous studies by …

0301 basic medicinePeptidyl transferaseProlineCytoskeleton organizationAmino Acid MotifsSaccharomyces cerevisiaePeptide Chain Elongation TranslationalSaccharomyces cerevisiaeBioinformaticsRibosomeGTP Phosphohydrolases03 medical and health sciences0302 clinical medicinePeptide Initiation FactorsGene Expression Regulation FungalGeneticsProtein biosynthesisHumansMolecular BiologyPolyproline helixBinding SitesbiologyRNA-Binding Proteinsbiology.organism_classificationStop codonCell biology030104 developmental biologybiology.proteinGenome FungalHydrophobic and Hydrophilic InteractionsRibosomesEIF5A030217 neurology & neurosurgeryProtein BindingNucleic Acids Research
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PTEN recruitment controls synaptic and cognitive function in Alzheimer's models

2016

Dyshomeostasis of amyloid-β peptide (Aβ) is responsible for synaptic malfunctions leading to cognitive deficits ranging from mild impairment to full-blown dementia in Alzheimer's disease. Aβ appears to skew synaptic plasticity events toward depression. We found that inhibition of PTEN, a lipid phosphatase that is essential to long-term depression, rescued normal synaptic function and cognition in cellular and animal models of Alzheimer's disease. Conversely, transgenic mice that overexpressed PTEN displayed synaptic depression that mimicked and occluded Aβ-induced depression. Mechanistically, Aβ triggers a PDZ-dependent recruitment of PTEN into the postsynaptic compartment. Using a PTEN kno…

0301 basic medicinePrimary Cell CulturePDZ DomainsMice TransgenicMolecular neuroscienceBiologyNeurotransmissionSynaptic TransmissionMice03 medical and health sciences0302 clinical medicineAlzheimer DiseasePostsynaptic potentialmedicineAnimalsPTENGene Knock-In TechniquesAmyloid beta-PeptidesGeneral NeurosciencePTEN PhosphohydrolaseLong-term potentiationmedicine.diseaseRatsDisease Models Animal030104 developmental biologySynaptic fatigueSynaptic plasticitybiology.proteinAlzheimer's diseaseCognition DisordersNeuroscience030217 neurology & neurosurgeryNature Neuroscience
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Artefactual band patterns by SDS-PAGE of the Vip3Af protein in the presence of proteases mask the extremely high stability of this protein.

2018

Abstract Vip3 proteins are secretable proteins from Bacillus thuringiensis with important characteristics for the microbiological control of agricultural pests. The exact details of their mode of action are yet to be disclosed and the crystallographic structure is still unknown. Vip3 proteins are expressed as protoxins that have to be activated by the insect gut proteases. A previous study on the peptidase processing of Vip3Aa revealed that the protoxin produced artefactual band patterns by SDS-PAGE due to the differential stability of this protein and the peptidases to SDS and heating (Bel et al., 2017 Toxins 9:131). To determine whether this phenomenon also applies to other Vip3A proteins…

0301 basic medicineProteases030106 microbiologyBacillus thuringiensisSpodopteraSpodopteraCleavage (embryo)Biochemistry03 medical and health sciencesBacterial ProteinsStructural BiologyBacillus thuringiensismedicineAnimalsMode of actionMolecular BiologyPolyacrylamide gel electrophoresisbiologyChemistryProtein StabilityfungiMidgutGeneral Medicinebiology.organism_classificationTrypsin030104 developmental biologyBiochemistryInsect ProteinsElectrophoresis Polyacrylamide Gelmedicine.drugPeptide HydrolasesInternational journal of biological macromolecules
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Protease‐activated receptor signaling in intestinal permeability regulation

2019

Protease-activated receptors (PARs) are a unique class of G-protein-coupled transmembrane receptors, which revolutionized the perception of proteases from degradative enzymes to context-specific signaling factors. Although PARs are traditionally known to affect several vascular responses, recent investigations have started to pinpoint the functional role of PAR signaling in the gastrointestinal (GI) tract. This organ is exposed to the highest number of proteases, either from the gut lumen or from the mucosa. Luminal proteases include the host's digestive enzymes and the proteases released by the commensal microbiota, while mucosal proteases entail extravascular clotting factors and the enzy…

0301 basic medicineProteasesCell typeProtease-activated receptorReceptors Proteinase-ActivatedBiologyBiochemistryPermeabilityEpitheliumInflammatory bowel disease03 medical and health sciencesGastrointestinal cancer0302 clinical medicineImmune systemmedicineAnimalsHumansProtease-activated receptorIntestinal MucosaSymbiosisReceptorMolecular BiologyMicrobial proteasesGastrointestinal NeoplasmsClotting factorIntestinal permeabilityCoagulationMicrobiotaEpithelial barrier functionCell BiologyInflammatory Bowel Diseasesmedicine.diseaseIntestinal epitheliumTissue factorGastrointestinal MicrobiomeCell biologyIntestineGastrointestinal TractDisease Models Animal030104 developmental biologyGene Expression RegulationBacterial Translocation030220 oncology & carcinogenesisPeptide HydrolasesSignal Transduction
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