Search results for " AMINO"

showing 10 items of 789 documents

A second family with familial AD and the V717L APP mutation has a later age at onset

2006

Four mutations have been reported at the 717 codon of the amyloid precursor protein (APP), with valine substituted by isoleucine, glycine, phenylalanine, and leucine. While several families with the isoleucine substitution have been described, the other substitutions have been reported in only one family each worldwide. A family with the V717L APP mutation has been previously reported,1 with a mean age at onset of 38 years (range 35 to 39), based on four affected family members, and a mean age at death of 46 years (range 40 to 50). We have identified a second family with a later mean age at onset of 50 years (range 48 to 57) and mean age at death of 61 years (range 57 to 68). Family 171 is …

MalePediatricsmedicine.medical_specialtyMutation Missensemedicine.disease_causeAmyloid beta-Protein PrecursorAlzheimer DiseaseValineInternal medicinemedicineAmyloid precursor proteinHumansAge of OnsetAgedAge of Onset Aged Alzheimer Disease/genetics Alzheimer Disease/physiopathology Amino Acid Substitution Amyloid beta-Protein Precursor/genetics Female Humans Malle Middle Aged Mutation Missense PedigreeMutationSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicabiologyMean ageMiddle AgedPedigreeEndocrinologyAmino Acid Substitutionbiology.proteinFemaleNeurology (clinical)IsoleucineNeurology
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Sequence variation in couch potato and its effects on life-history traits in a northern malt fly, Drosophila montana

2011

Abstract Couch potato ( cpo ) has previously been connected to reproductive diapause in several insect species including Drosophila melanogaster , where it has been suggested to provide a link between the insulin signalling pathway and the hormonal control of diapause. In the first part of the study we sequenced nearly 3.6 kb of this gene in a northern Drosophila species ( Drosophila montana ) with a robust photoperiodically determined diapause and found several types of polymorphisms along the sequenced area. We also found variation among five Drosophila virilis group species in the length of the 5th exon of cpo and in the site of the stop codon at the end of this exon. The second part of …

MalePhysiologyAmino Acid MotifsMolecular Sequence DataPopulationDiapauseExonSpecies SpecificityAnimalsDrosophila ProteinsAmino Acid SequenceeducationGeneConserved SequenceSequence DeletionGeneticseducation.field_of_studyPolymorphism GeneticSequence Homology Amino AcidbiologyWild typeNuclear ProteinsExonsSequence Analysis DNAbiology.organism_classificationIntronsStop codonDrosophila virilisPhenotypeInsect ScienceDrosophilaFemaleDrosophila melanogasterSequence AlignmentJournal of Insect Physiology
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Regulation of X-Chromosome-Linked Inhibitor of Apoptosis Protein in Kainic Acid-Induced Neuronal Death in the Rat Hippocampus

2001

XIAP (X-chromosome-linked inhibitor of apoptosis protein) is an antiapoptotic protein which inhibits the activity of caspases and suppresses cell death. However, little is known about the presence and function of XIAP in the nervous system. Here we report that XIAP mRNA is expressed in developing and adult rat brain. Using a specific antibody, we observed XIAP-immunoreactive cells in different brain regions, among others, in the hippocampus and cerebral cortex. Kainic acid, which induces delayed cell death of specific neurons, increased the levels of XIAP in the CA3 region of hippocampus. XIAP was, however, largely absent in cells undergoing cell death, as shown by TUNEL labeling and staini…

MaleProgrammed cell deathKainic acidX ChromosomeGenetic LinkageHippocampusApoptosisX-Linked Inhibitor of Apoptosis ProteinCaspase 3Hippocampal formationInhibitor of apoptosisHippocampusCellular and Molecular Neurosciencechemistry.chemical_compoundExcitatory Amino Acid AgonistsIn Situ Nick-End LabelingAnimalsRNA MessengerMolecular BiologyCells CulturedCaspaseNeuronsKainic AcidCell DeathbiologyCaspase 3Gene Expression Regulation DevelopmentalProteinsCell BiologyMolecular biologyRatsXIAPnervous systemchemistryCaspasesNerve Degenerationbiology.proteinBiomarkersMolecular and Cellular Neuroscience
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Effects of CNQX and MPEP on sensitization to the rewarding effects of morphine

2011

The present study was conducted to evaluate the influence of the glutamatergic receptors α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) and metabotropic glutamate 5 (mGlu5) receptors on sensitization to the rewarding effects of morphine. The effects of pre-treatment with saline or 20 mg/kg morphine plus the AMPA receptor antagonist 6-cyano-7-nitroquinoxaline-2,3-dione (CNQX) (5 or 10 mg/kg) or the metabotropic Glu5 receptor antagonist 6-methyl-2-(phenylethynyl)-pyridine (MPEP) (5 or 10 mg/kg) on the place conditioning induced by a low dose of morphine (2 mg/kg) were assessed. The 2 mg/kg dose of morphine was ineffective in animals pre-treated with saline but induced a clear con…

MalePyridinesmedicine.drug_classReceptor Metabotropic Glutamate 5AMPA receptorPharmacologyReceptors Metabotropic GlutamateMicechemistry.chemical_compoundRewardmedicineAnimalsReceptors AMPASensitization6-Cyano-7-nitroquinoxaline-23-dionePharmacologyDose-Response Relationship DrugMorphineAntagonistReceptor antagonistConditioned place preferencemedicine.anatomical_structureMetabotropic receptorchemistryAnesthesiaCNQXMorphineConditioning OperantExcitatory Amino Acid Antagonistsmedicine.drugEuropean Journal of Pharmacology
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Brain-Derived Neurotrophic Factor But Not Forced Arm Use Improves Long-Term Outcome After Photothrombotic Stroke and Transiently Upregulates Binding …

2008

Background and Purpose— Both application of neurotrophic factors like brain-derived neurotrophic factor (BDNF) and constraint-induced movement therapy like forced arm use have been shown to potentially improve outcome after stroke. The aim of the present study was to check whether postischemic long-term outcome correlates to specific modifications in the abundance of various neurotransmitter receptors. Methods— Adult male Wistar rats were subjected to photothrombotic ischemia and assigned to various treatment groups (n=5 each) with end points at 3 and 6 weeks: (1) ischemic control (saline); (2) BDNF (ischemia, 20 μg BDNF); (3) forced arm use (ischemia, saline, and ipsilateral plaster cast …

MaleRestraint PhysicalMotor ActivityLigandsDownregulation and upregulationNeurotrophic factorsForelimbmedicineAnimalsRats WistarReceptorGABA Agonistsalpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic AcidStrokePhysical Therapy ModalitiesAdvanced and Specialized NursingBrain-derived neurotrophic factorMuscimolbusiness.industryBrain-Derived Neurotrophic FactorGlutamate receptorBrainCerebral Infarctionmedicine.diseaseRatsUp-RegulationStrokemedicine.anatomical_structureReceptors Glutamatenervous systemAnesthesiaExcitatory postsynaptic potentialAutoradiographyNeurology (clinical)Dizocilpine MaleateIntracranial ThrombosisForelimbCardiology and Cardiovascular MedicinebusinessExcitatory Amino Acid AntagonistsNeuroscienceStroke
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Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

2012

Objective— Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol <5th percentile). Methods and Results— The combined hypolipidemia cut-offs were chosen according to total cholesterol and HDL-cholesterol levels reported in the ANGPTL3 kindred described to date: total cholesterol levels, <2nd percentile …

MaleSettore MED/09 - Medicina InternaApolipoprotein BGene mutationCompound heterozygositymedicine.disease_causeSeverity of Illness IndexHypobetalipoproteinemiaschemistry.chemical_compoundGene Frequency80 and overPrevalenceMissense mutationgeneticsepidemiology; genetics; hypobetalipoproteinemia; lipoproteins; Adolescent; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Angiopoietins; Apolipoproteins B; Biomarkers; Cholesterol; Cholesterol HDL; Female; Gene Frequency; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hypobetalipoproteinemias; Italy; Male; Middle Aged; Missouri; Molecular Sequence Data; Phenotype; Prevalence; Severity of Illness Index; Young Adult; Codon Nonsense; Mutation Missense; Cardiology and Cardiovascular MedicineAged 80 and overMutationHomozygotehypobetalipoproteinemiaMiddle AgedCholesterolPhenotypeItalyCodon NonsenseepidemiologyFemaleCardiology and Cardiovascular MedicineHumanAdultmedicine.medical_specialtyHeterozygoteHDLAdolescentMolecular Sequence DataMutation MissenseSocio-culturaleAngiopoietinepidemiology; lipoproteins; genetics; hypobetalipoproteinemiaBiologyYoung AdultInternal medicinemedicineHumansGenetic Predisposition to DiseaseAmino Acid SequenceCodonAllele frequencyAgedAngiopoietin-Like Protein 3Apolipoproteins BMissouriCholesterolCholesterol HDLmedicine.diseaselipoproteinsEndocrinologyAngiopoietin-like ProteinsNonsensechemistryBiological MarkerMutationbiology.proteinHypobetalipoproteinemiaMissenseAngiopoietinsBiomarkersArteriosclerosis, thrombosis, and vascular biology
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Safety of etanercept and methotrexate in patients with rheumatoid arthritis and hepatitis C virus infection: a multicenter randomized clinical trial.

2014

Objective.To evaluate the safety and efficacy of therapy with etanercept and methotrexate (MTX) in patients with active rheumatoid arthritis (RA) and mild hepatitis C virus (HCV) infection.Methods.In this prospective open study, 29 patients with active RA were randomly assigned to receive therapy with MTX alone, etanercept alone, or a combination of MTX and etanercept, and monitored up to 54 weeks. The primary endpoint was safety; secondary aims were efficacy as defined by the 44-joint Disease Activity Score (DAS44) and health assessment questionnaire (HAQ). Serum liver enzymes and HCV viral load were serially measured.Results.In the whole cohort, aspartate aminotransferase (AST) serum leve…

MaleSettore MED/16 - REUMATOLOGIATNF-α INHIBITORSHEALTH ASSESSMENT QUESTIONNAIREHepacivirusmedicine.disease_causeVirus ReplicationGastroenterologySeverity of Illness IndexReceptors Tumor Necrosis FactorEtanerceptEtanerceptArthritis RheumatoidDISEASE ACTIVITY SCORELiver Function TestsRheumatoidReceptorsImmunology and AllergyProspective StudiesGISEAbiologyAlanine TransaminaseHepatitis CMiddle AgedViral LoadHepatitis CTreatment OutcomeRheumatoid arthritisAntirheumatic AgentsCombinationDrug Therapy CombinationFemaleTRANSAMINASESViral loadmedicine.drugmusculoskeletal diseasesAdultmedicine.medical_specialtyHepatitis C virusImmunologyDrug TherapyRheumatologyInternal medicinemedicineHumansAspartate AminotransferasesAgedHepatitisbusiness.industryArthritisTNF-alpha INHIBITORS TRANSAMINASES GISEA DISEASE ACTIVITY SCORE HEALTH ASSESSMENT QUESTIONNAIREmedicine.diseaseRheumatologyMethotrexateAlanine transaminaseImmunoglobulin GImmunologybiology.proteinTumor Necrosis FactorbusinessThe Journal of rheumatology
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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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Identification and properties of the cell membrane bound leucine aminopeptidase interacting with the potential immunostimulant and chemotherapeutic a…

1983

Bestatin was found to be a competitive inhibitor (with respect to the Leu-NA substrate) not only of the isolated microsomal and cytosolic leucine aminopeptidases (Leu-APm and Leu-APc) but also of the aminopeptidases (APs) present in membrane preparations (from mouse liver) and on the cell surface of L5178Y cells. Kinetic parameters indicate that cellular AP is identical to Leu-APm. To rule out the possibility that AP-B is involved in the inhibition reactions, comparable studies with amastatin were performed. Electrophoretical studies revealed the solubilized cell membrane bound AP to co-migrate with Leu-APm in polyacrylamide gels. The activity of the separated membrane AP was inhibited by b…

MaleSurface PropertiesCellBiochemistryAminopeptidaseBinding CompetitiveCell membranechemistry.chemical_compoundLeucyl AminopeptidaseMiceAmastatinCytosolLeucinemedicineAnimalsCells CulturedPharmacologyBinding SitesChemistryCell CycleCell MembraneCell cycleCytosolmedicine.anatomical_structureBiochemistryMicrosomeMice Inbred CBALeucineProtein BindingBiochemical pharmacology
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Differential effect of beta-N-oxalylamino-L-alanine, the Lathyrus sativus neurotoxin, and (+/-)-alpha-amino-3-hydroxy-5-methylisoxazole-4-propionate …

2000

We studied the effect of beta-oxalylamino-L-alanine, a glutamate analog present in Lathyrus sativus seeds and implicated in the etiopathogenesis of neurolathyrism, and (+/-)-alpha-amino-3-hydroxy-5-methylisoxazole-4-propionate on the extracellular levels of aspartate, glutamate and taurine in the primary motor cortex of freely moving rats. We found that while both neurotoxins increase the level of aspartate and glutamate, only (+/-)-alpha(-amino-3-hydroxy-5-methylisoxazole-4-propionate is able to modulate the level of taurine. GYKI-52466, a non-competitive non-NMDA antagonist, inhibited beta-oxalylamino-L-alanine-induced increase of aspartate, but not that of glutamate. Conversely, this ant…

MaleTaurineTaurineMicrodialysisGlutamic AcidTetrodotoxinReceptors N-Methyl-D-AspartateRats Sprague-DawleyCellular and Molecular Neurosciencechemistry.chemical_compoundGlutamate aspartate transporterNeurotoxinAnimalsNeurotransmitteralpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic AcidAlaninechemistry.chemical_classificationAspartic AcidbiologyGlutamate receptorMotor CortexAmino Acids DiaminoBrainCell BiologyCorpus StriatumAmino acidRatschemistryBiochemistrybiology.proteinPotassiumbeta-AlanineNMDA receptorExtracellular SpaceExcitatory Amino Acid AntagonistsNeurochemistry international
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