Search results for " AMINO"

showing 10 items of 789 documents

Identification and characterization of a gene encoding a putative mouse Rho GTPase activating protein gene 8, Arhgap8.

2003

Rho GTPase activating proteins promote the intrinsic GTP hydrolysis activity of Rho family proteins. We isolated a putative mouse ortholog of the human Rho GTPase activating protein 8, ARHGAP8. The open reading frame encodes a peptide of 387 amino acids with high homology to human ARHGAP8 in its N-terminal domain. Both radiation hybrid mapping and fluorescent in situ hybridization localized the gene to mouse chromosome 15E. The 23 kb genomic Arhgap8 sequence consists of eight exons and seven introns. Northern blot and RT-PCR analyses showed that a transcript of approximately 1.9 kb is ubiquitously expressed in various adult mouse tissues with particularly strong expression in kidney.

MaleARHGAP8DNA ComplementaryGTPase-activating proteinMolecular Sequence DataGene ExpressionGTPaseBiologyExonMiceGene expressionGeneticsAnimalsAmino Acid SequenceRNA MessengerCloning MolecularGenePeptide sequenceIn Situ Hybridization FluorescenceRadiation Hybrid MappingBase SequenceSequence Homology Amino AcidGTPase-Activating ProteinsChromosome MappingGeneral MedicineExonsSequence Analysis DNABlotting NorthernMolecular biologyIntronsOpen reading frameGenesSequence AlignmentGene
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Influence of leucine on intestinal baclofen absorption as a model compound of neutral α-aminoacids

1995

The inhibitory effect of the essential alpha-aminoacid L-leucine on the intestinal absorption of the antispastic drug baclofen was examined by means of an in situ rat gut perfusion technique. When 0.5 mM baclofen solutions were perfused in the presence of increasing concentrations of the aminoacid (5-100 mM), the apparent absorption rate constant of the drug decreased as the initial leucine concentration increased. Higher leucine concentrations however did not completely abolish the absorption of the drug (at 100 mM of leucine, only 76% inhibition was observed). The interaction can be mathematically described as a complete competitive inhibition with a second component, K = 0.35 (+/- 0.08)h…

MaleAbsorption (pharmacology)Baclofenmedicine.medical_specialtyTime FactorsPharmaceutical ScienceModels BiologicalIntestinal absorptionchemistry.chemical_compoundNon-competitive inhibitionLeucineInternal medicinemedicineAnimalsPharmacology (medical)Amino AcidsRats WistarPharmacologychemistry.chemical_classificationChromatographyDose-Response Relationship DrugChemistryGeneral MedicineRatsAmino acidBioavailabilityDietary aminoacidKineticsBaclofenEndocrinologyIntestinal AbsorptionLeucineBiopharmaceutics & Drug Disposition
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A variant of the LRP4 gene affects the risk of chronic lymphocytic leukaemia transformation to Richter syndrome

2010

Richter syndrome (RS) represents the transformation of chronic lymphocytic leukaemia (CLL) to aggressive lymphoma. Risk factors of CLL transformation to RS are only partly known. We explored the role of the host genetic background as a risk factor for RS occurrence. Forty-five single nucleotide polimorphisms (SNPs) known to be relevant for CLL prognosis were genotyped in a consecutive cohort of 331 CLL, of which 21 had transformed to RS. After correcting for multiple testing and adjusting for previously reported RS risk factors, the LRP4 rs2306029 TT variant genotype was the sole SNP independently associated with a higher risk of RS transformation (Hazard Ratio: 4·17; P = 0·001; q = 0·047).…

MaleAged; Amino Acid Sequence; Animals; Disease Progression; Epidemiologic Methods; Female; Genetic Predisposition to Disease; Genotype; Humans; LDL-Receptor Related Proteins; Leukemia Lymphocytic Chronic B-Cell; Lymphoma; Male; Middle Aged; Molecular Sequence Data; Neoplasm Proteins; Polymorphism Single Nucleotide; Prognosis; Sequence Alignment; SyndromeGenotypeLymphomaMolecular Sequence DataLRP4genetics/metabolismRichter syndrome; chronic lymphocytic leukemia; LRP4 genePolymorphism Single NucleotideAnimalsHumansGenetic Predisposition to DiseaseAmino Acid SequenceChronicPolymorphismLDL-Receptor Related ProteinsAgedLeukemiaLRP4 geneB-CellSingle NucleotideSyndromeMiddle AgedPrognosisRichter syndrome.Leukemia Lymphocytic Chronic B-Cellsingle nucleotide polimorphismLymphocyticdiffuse large B cell lymphomaNeoplasm ProteinsAged Amino Acid Sequence Animals Disease Progression Epidemiologic Methods Female Genetic Predisposition to Disease Genotype Humans LDL-Receptor Related Proteins; genetics/metabolism Leukemia; Lymphocytic; Chronic; B-Cell; genetics/metabolism Lymphoma; genetics/metabolism Male Middle Aged Molecular Sequence Data Neoplasm Proteins; genetics/metabolism Polymorphism; Single Nucleotide Prognosis Sequence Alignment SyndromeSettore MED/15 - MALATTIE DEL SANGUERichter syndrome; chronic lymphocytic leukaemia; diffuse large B cell lymphoma; single nucleotide polimorphism; LRP4Disease Progressionchronic lymphocytic leukemiaFemaleRichter syndromeEpidemiologic MethodsSequence Alignmentchronic lymphocytic leukaemia
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Connexin-30 mRNA Is Up-Regulated in Astrocytes and Expressed in Apoptotic Neuronal Cells of Rat Brain Following Kainate-Induced Seizures

2002

Glial connexins (Cxs) make an extensively interconnected functional syncytium created by a network of gap junctions between astrocytes and oligodendrocytes. Among Cxs expressed in the brain, Cx30 is expressed in grey matter astrocytes, as shown at the protein level by immunoistochemistry. In the present study we aimed to perform a detailed study of the regional distribution of Cx30 mRNA in the adult and postnatal developing rat brain, analyzing its expression by in situ hybridization, and determining its cell type localization by double labeling. Recently, it has been suggested that neuronal activity may control the level of intercellular communication between astrocytes through gap junctio…

MaleAgingCell typeGene ExpressionConnexinApoptosisKainate receptorCell CommunicationIn situ hybridizationGrey matterBiologyConnexinsCellular and Molecular NeuroscienceStatus EpilepticusSeizuresExcitatory Amino Acid AgonistsmedicineAnimalsPremovement neuronal activityRNA MessengerRats WistarMolecular BiologyNeuronsSyncytiumKainic AcidGap junctionBrainCell BiologyImmunohistochemistryRatsUp-RegulationCell biologymedicine.anatomical_structureAnimals NewbornAstrocytesNeuroscienceMolecular and Cellular Neuroscience
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Cellular expression of connexins in the rat brain: neuronal localization, effects of kainate-induced seizures and expression in apoptotic neuronal ce…

2003

The identification of connexins (Cxs) expressed in neuronal cells represents a crucial step for understanding the direct communication between neurons and between neuron and glia. In the present work, using a double-labelling method combining in situ hybridization for Cx mRNAs with immunohistochemical detection for neuronal markers, we provide evidence that, among cerebral connexins (Cx26, Cx32, Cx36, Cx37, Cx40, Cx43, Cx45 and Cx47), only Cx45 and Cx36 mRNAs are localized in neuronal cells in both developing and adult rat brain. In order to establish whether connexin expression is influenced in vivo by abnormal neuronal activity, we examined the short-term effects of kainate-induced seizur…

MaleAgingTime FactorsgliaHippocampusConnexinbrain developmentKainate receptorApoptosisIn situ hybridizationBiologyConnexinsgap junctionbrain development; gap junction; gliaSeizuresTubulinmedicineExcitatory Amino Acid AgonistsIn Situ Nick-End LabelingPremovement neuronal activityAnimalsRNA MessengerOrganic ChemicalsRats WistarIn Situ HybridizationFluorescent DyesNeuronsMessenger RNAKainic AcidReverse Transcriptase Polymerase Chain ReactionGeneral NeuroscienceGap junctionBrainGene Expression Regulation DevelopmentalFluoresceinsImmunohistochemistryCell biologyRatsmedicine.anatomical_structurenervous systemAnimals NewbornPhosphopyruvate HydrataseAutoradiographysense organsNeuronNeuroscienceDensitometryThe European journal of neuroscience
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Constitutive expression and inducibility of O6-methylguanine-DNA methyltransferase and N-methylpurine-DNA glycosylase in rat liver cells exhibiting d…

1995

AbstractWe have analyzed the expression of the DNA repair genes O6-methylguanine-DNA methyltransferase (MGMT) and N-methylpurine-DNA glycosylase (MPG) at RNA and protein activity level in primary rat hepatocytes in vitro and various rat hepatoma cell lines exhibiting different status of differentiation. The basal level of MGMT mRNA and activity correlated well with the degree of differentiation, as measured by tyrosine aminotransferase (TAT) mRNA expression. Induction of MGMT mRNA and protein activity by X-ray and Nmethyl-N′-nitro-N-nitrosoguanidine (MNNG) treatment was most pronounced in the well-differentiated hepatocytes and in various differentiated hepatoma cell lines (up to 6-fold). T…

MaleAlkylating AgentsMethyltransferaseDNA repairDNA repairBiology(Rat)DNA methyltransferaseCell LineDNA GlycosylasesRats Sprague-DawleyO(6)-Methylguanine-DNA MethyltransferaseTyrosine aminotransferaseGene expressionAnimalsHepatocyteRNA MessengerN-Glycosyl HydrolasesMolecular BiologyneoplasmsMessenger RNACell DifferentiationMethyltransferasesMolecular biologydigestive system diseasesRatsPerfusionLiverCell cultureDNA glycosylaseEnzyme InductionMolecular MedicineGene expressionMGMTMPGBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.

2009

Histone acetylation plays essential roles in cell cycle progression, DNA repair, gene expression and silencing. Although the knowledge regarding the roles of acetylation of histone lysine residues is rapidly growing, very little is known about the biochemical pathways providing the nucleus with metabolites necessary for physiological chromatin acetylation. Here, we show that mutations in the scheggia (sea)-encoded Sea protein, the Drosophila ortholog of the human mitochondrial citrate carrier Solute carrier 25 A1 (SLC25A1), impair citrate transport from mitochondria to the cytosol. Interestingly, inhibition of sea expression results in extensive chromosome breakage in mitotic cells and indu…

MaleAnion Transport ProteinsBlotting WesternMolecular Sequence DataOrganic Anion Transporterscitrate transporterSAP30BiologyModels BiologicalHistonesMitochondrial ProteinsHistone H2AGeneticsHistone codeAnimalsDrosophila ProteinsHumansAmino Acid SequenceCitratesSLC25A1Molecular BiologyGenetics (clinical)Cells CulturedConserved SequenceChromosome Aberrationsmetabolism epigenetics histone acetylation AcCoA Citrate carrierSequence Homology Amino AcidChromosome integrityhistone acetylationHDAC8AcetylationChromosome BreakageGeneral MedicineCitrate transportFibroblastsHDAC4mitochondriaHistoneBiochemistryAcetylationMutationcitrate transporter histone acetylationbiology.proteinFemaleRNA InterferenceCarrier ProteinsHuman molecular genetics
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Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.

2013

The sea urchin provides a relatively simple and tractable system for analyzing the early stages of embryo development. Here, we use the sea urchin species, Paracentrotus lividus, to investigate the role of Alix in key stages of embryogenesis, namely the egg fertilization and the first cleavage division. Alix is a multifunctional protein involved in different cellular processes including endocytic membrane trafficking, filamentous (F)-actin remodeling, and cytokinesis. Alix homologues have been identified in different metazoans; in these organisms, Alix is involved in oogenesis and in determination/differentiation events during embryo development. Herein, we describe the identification of th…

MaleBlastomeresanimal structuresDNA ComplementaryEmbryo Nonmammalian2-cell stage embryo; Alix/AIP1; F-actin; sea urchin embryoBlotting WesternMolecular Sequence DataParacentrotus lividusF-actinbiology.animalBotany2-cell stage embryoMediterranean SeaAnimalsAmino Acid SequenceCloning MolecularSea urchinPeptide sequenceActinsea urchin embryoMicroscopy ConfocalbiologySequence Homology Amino AcidReverse Transcriptase Polymerase Chain ReactionEmbryogenesisMicrofilament ProteinsGene Expression Regulation DevelopmentalEmbryoCell BiologySequence Analysis DNAbiology.organism_classificationAlix/AIP1Cell biologyCytoplasmFertilizationembryonic structuresParacentrotusFemaleCytokinesisDevelopmental Biology
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Genes coding for intermediate filament proteins closely related to the hagfish "thread keratins (TK)" alpha and gamma also exist in lamprey, teleosts…

2005

The "thread keratins (TK)" alpha and gamma so far have been considered highly specialized intermediate filament (IF) proteins restricted to hagfish. From lamprey, we now have sequenced five novel IF proteins closely related to TKalpha and TKgamma, respectively. Moreover, we have detected corresponding sequences in EST and genomic databases of teleosts and amphibians. The structure of the TKalpha genes and the positions of their deduced amino acid sequences in a phylogenetic tree clearly support their classification as type II keratins. The genes encoding TKgamma show a structure typical for type III IF proteins, whereas their positions in phylogenetic trees favor a close relationship to the…

MaleBranchiostomaDNA ComplementaryLanceletXenopusMolecular Sequence DataAmphibiansIntermediate Filament Proteinsbiology.animalKeratinAnimalsProtein IsoformsElectrophoresis Gel Two-DimensionalAmino Acid SequenceIntermediate filamentGenePhylogenyZebrafishchemistry.chemical_classificationintegumentary systembiologyPhylogenetic treeSequence Homology Amino AcidEcologyLampreyGene Expression ProfilingFishesGene Expression Regulation DevelopmentalLampreysCell BiologyExonsSequence Analysis DNAbiology.organism_classificationIntronschemistryEvolutionary biologyKeratinsFemaleHagfishesHagfishExperimental cell research
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