Search results for "peptidases"

showing 10 items of 319 documents

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population.

2006

Abstract The genetic etiology of familial hypobetalipoproteinemia (FHBL) is unclear in the majority of cases. Mutations in apolipoprotein B (APOB) are the only confirmed causes of FHBL. Recently, loss-of-function mutations of PCSK9 gene have been shown to be associated with the hypocholesterolemia phenotype. Our primary goal was to confirm that mutations in PCSK9 could be another cause of FHBL. Using the sequencing approach, we found that the c.43_44insCTG variation in PCSK9, a common in-frame insertion in both African American and Caucasian populations, is associated with the hypocholesterolemia phenotype in three FHBL families. Then we tested whether this variation could be associated wit…

MaleSettore MED/09 - Medicina InternaApolipoprotein BDNA Mutational Analysismedicine.disease_causePCSK9Hypobetalipoproteinemiaschemistry.chemical_compoundGene Frequencyapolipoprotein BChildGenetics (clinical)Aged 80 and overMutationeducation.field_of_studybiologySerine EndopeptidasesMiddle AgedPedigreefamilial hypobetalipoproteinemiaPhenotypeChild Preschoollipids (amino acids peptides and proteins)FemaleProprotein ConvertasesProprotein Convertase 9Adultmedicine.medical_specialtyAdolescentPopulationMolecular Sequence DataWhite PeopleLDLlipidInternal medicineGeneticsmedicineHumanseducationAllele frequencyAgedhypocholesterolemiaCholesterolPCSK9Cholesterol HDLCholesterol LDLmedicine.diseaseHypocholesterolemiaEndocrinologychemistryMutationbiology.proteinLipoproteinHuman mutation
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Depletion of polysialic acid from neural cell adhesion molecule (PSA-NCAM) increases CA3 dendritic arborization and increases vulnerability to excito…

2012

Chronic immobilization stress (CIS) shortens apical dendritic trees of CA3 pyramidal neurons in the hippocampus of the male rat, and dendritic length may be a determinant of vulnerability to stress. Expression of the polysialylated form of neural cell adhesion molecule (PSA-NCAM) in the hippocampal formation is increased by stress, while PSA removal by Endo-neuraminidase-N (endo-N) is known to cause the mossy fibers to defasciculate and synapse ectopically in their CA3 target area. We show here that enzymatic removal of PSA produced a remarkable expansion of dendritic arbors of CA3 pyramidal neurons, with a lesser effect in CA1. This expansion eclipsed the CIS-induced shortening of CA3 dend…

MaleSilver StainingKainic acidExcitotoxicityHippocampusBiologyHippocampal formationmedicine.disease_causeReceptors N-Methyl-D-AspartateArticleBody Mass IndexRats Sprague-DawleySynapsechemistry.chemical_compoundDevelopmental NeuroscienceExcitatory Amino Acid AgonistsmedicineAnimalsOrganic ChemicalsReceptorNeural Cell Adhesion MoleculesAnalysis of VarianceKainic AcidPolysialic acidPyramidal CellsMetalloendopeptidasesDendritesFluoresceinsCA3 Region HippocampalRatsCell biologyDisease Models AnimalGene Expression Regulationnervous systemNeurologychemistryNerve DegenerationSialic AcidsNeural cell adhesion moleculeNeuroscienceStress PsychologicalExperimental Neurology
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Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population

2010

BackgroundAlbeit several studies pointed out the pivotal role that CD4+T cells have in Multiple Sclerosis, the CD8+ T cells involvement in the pathology is still in its early phases of investigation. Proteasome degradation is the key step in the production of MHC class I-restricted epitopes and therefore its activity could be an important element in the activation and regulation of autoreactive CD8+ T cells in Multiple Sclerosis.Methodology/principal findingsImmunoproteasomes and PA28-alphabeta regulator are present in MS affected brain area and accumulated in plaques. They are expressed in cell types supposed to be involved in MS development such as neurons, endothelial cells, oligodendroc…

MaleT cells proteasomes multiple sclerosis parietal lobeMuscle ProteinsImmunoproteasomeEpitopeEpitopesGene FrequencyRisk FactorsCytotoxic T cellFunding: This work was financed in part by the grant Giovani Ricercatori 2007 from Italian Ministry of Health to MM DG and FMB by a grant from the European Commission Integrated Project PROTEOMAGE (FP6) to CF by the finalized projects of Fondazione Italiana Sclerosi Multipla (FISM) cod. 2003/R26 and BioPharmaNet to CF and 2002/R/40 and 2005/R/10 2008/R/11 (Genoa) to SD'A by the University of Bologna (FRO) to MPF by the Regione Piemonte (Ricerca Sanitaria Finalizzata Project and Ricerca Sanitaria Applicata-CIPE Project) to SD'A by Associazione Amici del Centro Dino Ferrari and IRCCS Ospedale Maggiore Policlinico Milano to DG and by the grants Sonderforschungsbereich (SFB-507 SFB-421) to PMK and US the grants TR43 and Neurocure to PMK. MM benefited from the A.V. Humboldt PostDoc fellowship. The funders had no role in study design data collection and analysis decision to publish or preparation of the manuscript.MultidisciplinaryMicrogliaQRBrainMiddle AgedImmunohistochemistryCysteine EndopeptidasesOligodendrogliamedicine.anatomical_structureItalyImmunoproteasome; multiple sclerosis; italian populationmultiple sclerosiImmunology/Antigen Processing and RecognitionMedicineFemaleMicrogliaNeuroscience/Neurobiology of Disease and RegenerationResearch ArticleProtein BindingAdultProteasome Endopeptidase ComplexMultiple SclerosisGenotypeScienceMolecular Sequence DataImmunology/AutoimmunityBiologySex FactorsMHC class IHLA-A2 AntigenmedicineHumansAmino Acid SequenceAlleleHLA-A AntigensMultiple sclerosisMacrophagesMyelin Basic Proteinmedicine.diseaseMyelin basic proteinImmunologybiology.proteinitalian populationCD8PLoS ONE
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Metformin increases APP expression and processing via oxidative stress, mitochondrial dysfunction and NF-κB activation: Use of insulin to attenuate m…

2015

AbstractClinical and experimental biomedical studies have shown Type 2 diabetes mellitus (T2DM) to be a risk factor for the development of Alzheimer's disease (AD). This study demonstrates the effect of metformin, a therapeutic biguanide administered for T2DM therapy, on β-amyloid precursor protein (APP) metabolism in in vitro, ex vivo and in vivo models. Furthermore, the protective role of insulin against metformin is also demonstrated. In LAN5 neuroblastoma cells, metformin increases APP and presenilin levels, proteins involved in AD. Overexpression of APP and presenilin 1 (Pres 1) increases APP cleavage and intracellular accumulation of β-amyloid peptide (Aβ), which, in turn, promotes ag…

Maleendocrine system diseasesmedicine.medical_treatmentmedicine.disease_causeAntioxidantsNF-κBAmyloid beta-Protein PrecursorAspartic Acid EndopeptidasesInsulinBiguanideNF-kappa BBrainAlzheimer's diseaseMetforminMetforminMitochondriaProtein TransportAntioxidantmedicine.drugmetformin T2DM Alzheimer's diseaseAdultmedicine.medical_specialtyProgrammed cell deathmedicine.drug_classOxidative phosphorylationBiologyAntidiabetic drugModels BiologicalPresenilinInternal medicineCell Line Tumormental disordersmedicinePresenilin-1AnimalsHumansMolecular BiologyCell NucleusSettore MED/04 - Patologia GeneraleAmyloid beta-PeptidesInsulinAdenylate KinaseOxidative Stress Pathwaynutritional and metabolic diseasesCell BiologyHydrogen PeroxideMice Inbred C57BLEndocrinologyGene Expression RegulationCytoprotectionOxidative stressLeukocytes MononuclearAmyloid Precursor Protein SecretasesOxidative stressBiochimica et Biophysica Acta (BBA) - Molecular Cell Research
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Prostasome-like vesicles stimulate acrosome reaction of pig spermatozoa

2007

Abstract Background The presence of small membranous particles characterizes the male genital fluids of different mammalian species. The influence of semen vesicles, denominated prostasomes, on sperm functional properties has been well documented in humans, but their biological activity is scarcely known in other species. The present work investigated prostasome-like vesicles in pig semen for their ability to interact with spermatozoa and to affect acrosome reaction. Methods Prostasome-like vesicles have been isolated from pig seminal plasma by high-speed centrifugation and Sephadex G-200 gel chromatography. Morphology of purified vesicles has been checked by scanning electron microscopy wh…

Maleendocrine systemlcsh:QH471-489SwineAcrosome reactionSemenCentrifugationBiologyAminopeptidaseslcsh:Gynecology and obstetricsEndocrinologySemenAnimalslcsh:ReproductionCentrifugationlcsh:RG1-991urogenital systemVesicleAcrosome ReactionSecretory VesiclesResearchObstetrics and GynecologyProteinsBiological activitySecretory VesicleSpermMolecular biologySpermatozoaCell biologyReproductive MedicineMicroscopy Electron ScanningProstasomesElectrophoresis Polyacrylamide GelDevelopmental BiologyReproductive Biology and Endocrinology
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The distinct gene expression of the pro-hormone convertases in the rat heart suggests potential substrates

1995

The present study examined the distribution of the pro-hormone convertases PC1, PC2, furin, PACE4 and PC5 in the rat heart. Northern blot analysis of RNA extracted from cardiac tissues showed high levels of furin and PACE4 mRNA in the atria and ventricles, while PC5 mRNA was found to be expressed at high levels in the dorsal aorta. Although undetectable by Northern blot analysis, both PC1 and PC2 mRNA were detected by in situ hybridization and immunohistochemistry in discrete regions of the intracardiac para-aortic ganglia. In situ hybridization studies also showed that furin mRNA was observed in all cardiac tissues and cells, consistent with the previously reported ubiquitous expression of…

Malemedicine.medical_specialtyHistologyMolecular Sequence DataGene ExpressionIn situ hybridizationSubstrate SpecificityPathology and Forensic MedicineRats Sprague-DawleyDorsal aortaInternal medicineGene expressionmedicineAnimalsAspartic Acid EndopeptidasesAmino Acid SequenceNorthern blotFurinIn Situ HybridizationMessenger RNAbiologyMyocardiumSerine EndopeptidasesRNACell BiologyBlotting NorthernImmunohistochemistryMolecular biologyHormonesRatsEndocrinologycardiovascular systembiology.proteinImmunohistochemistryCell and Tissue Research
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Region specific expression of furin mRNA in the rat brain.

1993

The distribution of furin mRNA was examined in the rat central nervous system. Northern blot analysis reveals the presence of a 4.4 kb band in all brain tissues examined. In situ hybridization analysis of frozen rat brain sections using a radioactively labeled antisense cRNA probe to rat furin demonstrated moderate to low levels of expression in both neuronal and non-neuronal tissue in all areas examined. Interestingly, higher levels of furin were expressed in selective regions which include the ventricles (the choroid plexus and ependymal cells), the islands of Calleja, the hippocampus and the pineal gland. the ubiquitous localization of furin in the brain is consistent with its postulated…

Malemedicine.medical_specialtyanimal structuresvirusesProprotein convertase 2In situ hybridizationRats Sprague-DawleyInternal medicineGene expressionmedicineAnimalsTissue DistributionNorthern blotRNA MessengerSubtilisinsFurinIn Situ HybridizationFurinbiologyHistocytochemistryGeneral NeuroscienceSerine EndopeptidasesBrainCell biologyRatsEndocrinologymedicine.anatomical_structureProprotein Convertase 2embryonic structuresIslands of Callejabiology.proteinChoroid plexusProprotein ConvertasesEpendymaNeuroscience letters
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Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strength.

2013

Type I fibrillar collagen is the most abundant protein in the human body, crucial for the formation and strength of bones, skin, and tendon. Proteolytic enzymes are essential for initiation of the assembly of collagen fibrils by cleaving off the propeptides. We report that Mep1a −/− and Mep1b −/− mice revealed lower amounts of mature collagen I compared with WT mice and exhibited significantly reduced collagen deposition in skin, along with markedly decreased tissue tensile strength. While exploring the mechanism of this phenotype, we found that cleavage of full-length human procollagen I heterotrimers by either meprin α or meprin β led to the generation of mature collagen molecules that s…

Materials scienceConnective tissueCHO CellsCollagen Type IMiceCricetulusFibrosisCricetinaeTensile StrengthmedicineAnimalsHumansProtein precursorSkinMice KnockoutMetalloproteinaseMultidisciplinaryProteolytic enzymesMetalloendopeptidasesProcollagen N-EndopeptidaseBiological Sciencesmedicine.diseaseCell biologyProcollagen peptidaseCollagen type I alpha 1medicine.anatomical_structureHEK293 CellsBiochemistryProteolysisProcollagen N-EndopeptidaseProceedings of the National Academy of Sciences of the United States of America
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Beta-3 adrenergic receptor overexpression reverses aortic stenosis-induced heart failure and restores balanced mitochondrial dynamics

2022

25 p.-7 fig.

Medicina InvestigacióPhysiologyMedicinaEnfermedad cardiovascularHipertrofia ventricular izquierdaMice TransgenicHeart failureBeta adrenergic systemMitochondrial DynamicsReceptores adrenérgicos betaMicePhysiology (medical)HumansAnimalsMyocytes CardiacMetabolismoHeart FailureAortic stenosisMetalloendopeptidasesAortic Valve StenosisHypertrophyMitochondriaMetabolismReceptors Adrenergic beta-3Hypertrophy Left VentricularCardiology and Cardiovascular MedicineEstenosis de la válvula aórtica
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Cholesterol-Like Effects of Selective Cyclooxygenase Inhibitors and Fibrates on Cellular Membranes and Amyloid-β Production

2007

Strong evidence suggests a mechanistic link between cholesterol metabolism and the formation of amyloid-beta peptides, the principal constituents of senile plaques found in the brains of patients with Alzheimer's disease. Here, we show that several fibrates and diaryl heterocycle cyclooxygenase inhibitors, among them the commonly used drugs fenofibrate and celecoxib, exhibit effects similar to those of cholesterol on cellular membranes and amyloid precursor protein (APP) processing. These drugs have the same effects on membrane rigidity as cholesterol, monitored here by an increase in fluorescence anisotropy. The effect of the drugs on cellular membranes was also reflected in the inhibitory…

Membrane lipidsCHO CellsPharmacologyAmyloid beta-Protein PrecursorMicechemistry.chemical_compoundCricetulusFenofibrateCell Line TumorCricetinaeAmyloid precursor proteinmedicineMembrane fluidityAnimalsAspartic Acid EndopeptidasesCyclooxygenase InhibitorsClofibrateSenile plaquesPharmacologySulfonamidesAmyloid beta-PeptidesFenofibratebiologyCholesterolCell MembraneCholesterolMembranechemistryBiochemistryCelecoxibbiology.proteinPyrazolesMolecular MedicineCyclooxygenaseAmyloid Precursor Protein Secretasesmedicine.drugMolecular Pharmacology
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