Search results for " assembly."

showing 10 items of 283 documents

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996

International audience; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

MaleIron-sulfur cluster assemblyPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsIron-Binding ProteinsGenetics0303 health sciencesMultidisciplinaryAutosomal recessive cerebellar ataxiaPedigree3. Good healthFemalemedicine.symptomChromosomes Human Pair 9HumanPair 9Heterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaMolecular Sequence DataGenes RecessiveLocus (genetics)BiologyChromosomes03 medical and health sciencesGene mappingAlleles; Amino Acid Sequence; Base Sequence; Chromosomes Human Pair 9; DNA Primers; Female; Friedreich Ataxia; Genes Recessive; Heterozygote; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Proteins; Sequence Alignment; Introns; Iron-Binding Proteins; Trinucleotide RepeatsmedicineRecessiveHumansPoint MutationAmino Acid SequenceAlleleAllelesDNA Primers030304 developmental biologyBase SequencePoint mutationProteins[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseMolecular biologyIntronsGenes[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsFriedreich AtaxiaFrataxinbiology.proteinSequence Alignment030217 neurology & neurosurgeryScience
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Evolution of chromatin-remodeling complexes: comparative genomics reveals the ancient origin of "novel" compensasome genes.

2003

Dosage compensation in Drosophila is mediated by a complex, called compensasome, com- posed of at least five proteins and two noncoding RNAs. Genes encoding compensasome proteins have been collectively named male-specific lethals or msls. Recent work showed that three of the Drosophila msls (msl-3, mof, and mle) have an ancient origin. In this study, I describe likely orthologues of the two re- maining msls, msl-1 and msl-2, in several inverte- brates and vertebrates. The MSL-2 protein is the only one found in Drosophila and vertebrate genomes that contains both a RING finger and a peculiar type of CXC domain, related to the one present in Enhancer of Zeste proteins. MSL-1 also contains two…

MaleLeucine zipperAmino Acid MotifsMolecular Sequence DataBiologyGenomeChromatin remodelingEvolution MolecularDosage Compensation GeneticGeneticsRing fingermedicineAnimalsDrosophila ProteinsHumansAmino Acid SequenceEnhancerMolecular BiologyEcology Evolution Behavior and SystematicsCaenorhabditis elegansPhylogenyComparative genomicsGeneticsDosage compensationfungiNuclear ProteinsGenomicsbiology.organism_classificationChromatin Assembly and DisassemblyProtein Structure TertiaryDNA-Binding Proteinsmedicine.anatomical_structureVertebratesDrosophilaSequence AlignmentTranscription FactorsJournal of molecular evolution
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Genetic identification of a network of factors that functionally interact with the nucleosome remodeling ATPase ISWI.

2008

Nucleosome remodeling and covalent modifications of histones play fundamental roles in chromatin structure and function. However, much remains to be learned about how the action of ATP-dependent chromatin remodeling factors and histone-modifying enzymes is coordinated to modulate chromatin organization and transcription. The evolutionarily conserved ATP-dependent chromatin-remodeling factor ISWI plays essential roles in chromosome organization, DNA replication, and transcription regulation. To gain insight into regulation and mechanism of action of ISWI, we conducted an unbiased genetic screen to identify factors with which it interacts in vivo. We found that ISWI interacts with a network o…

MaleProteomicsCancer Researchlcsh:QH426-470Histone Deacetylase 1BiologySettore MED/08 - Anatomia PatologicaChromosomesHistone DeacetylasesChromatin remodelingHistonesHistone H403 medical and health sciences0302 clinical medicineGenetics and Genomics/EpigeneticsGeneticsAnimalsDrosophila ProteinsNucleosomeMolecular BiologyGenetics (clinical)Ecology Evolution Behavior and Systematics030304 developmental biologyAdenosine TriphosphatasesGenetics0303 health sciencesNuclear ProteinsAcetylationChromatin Assembly and DisassemblyChromatinNucleosomesChromatiniswi drosophilaRepressor ProteinsChromatin epigeneticsHDAC Chromatin RemodellingSin3 Histone Deacetylase and Corepressor Complexlcsh:GeneticsDrosophila melanogasterHistoneHistone deacetylase complexbiology.proteinFemaleHistone deacetylaseHistone deacetylase activity030217 neurology & neurosurgeryResearch ArticleTranscription Factors
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In vivo GSH depletion induces c-myc expression by modulation of chromatin protein complexes.

2009

Abstract We hypothesize that glutathione (GSH) fluctuations could have a prominent role in the modulation of c-myc expression through a mechanism affecting chromatin remodeling complexes. This could lead to an open chromatin structure accessible to transcription factors. We studied the in vivo effect of GSH depletion on these complexes bound to the c-myc promoter in the liver of l-buthionine-(S,R)-sulfoximine (BSO)-treated rats. Using chromatin immunoprecipitation we found that 3 h after BSO treatment the repressing complexes Id2 and Sin3A (part of a histone–deacetylase complex) were released from the c-myc promoter. STAT3 was phosphorylated and associated with its coactivator p300 with int…

MaleSTAT3 Transcription FactorTranscriptional ActivationTime FactorsBiologyBiochemistryChromatin remodelingHistone DeacetylasesProto-Oncogene Proteins c-mycHistone H3Physiology (medical)Gene expressionCoactivatorTranscriptional regulationAnimalsp300-CBP Transcription FactorsPhosphorylationRats WistarTranscription factorButhionine SulfoximineInhibitor of Differentiation Protein 2AcetylationChromatin Assembly and DisassemblyMolecular biologyGlutathioneChromatinRatsRepressor ProteinsSin3 Histone Deacetylase and Corepressor ComplexGene Expression RegulationLiverChromatin immunoprecipitationProtein BindingFree radical biologymedicine
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Engineered microenvironments for synergistic VEGF - Integrin signalling during vascularization

2017

We have engineered polymer-based microenvironments that promote vasculogenesis both in vitro and in vivo through synergistic integrin-growth factor receptor signalling. Poly(ethyl acrylate) (PEA) triggers spontaneous organization of fibronectin (FN) into nanonetworks which provide availability of critical binding domains. Importantly, the growth factor binding (FNIII12-14) and integrin binding (FNIII9-10) regions are simultaneously available on FN fibrils assembled on PEA. This material platform promotes synergistic integrin/VEGF signalling which is highly effective for vascularization events in vitro with low concentrations of VEGF. VEGF specifically binds to FN fibrils on PEA compared to …

MaleVascular Endothelial Growth Factor AIntegrinsBiophysicsNeovascularization PhysiologicBioengineeringpoly(ethyl acrylate)ArticleBiomaterialsHuman Umbilical Vein Endothelial CellsImage Processing Computer-AssistedAnimalsHumansPhosphorylationExtracellular Signal-Regulated MAP KinasesFibronectinTissue EngineeringPhospholipase C gammaProtein assemblyVascularizationVEGFFibronectinsMice Inbred C57BLCellular MicroenvironmentMechanics of MaterialsFocal Adhesion Protein-Tyrosine KinasesFISICA APLICADAMutationCeramics and CompositesINGENIERIA ELECTRICAGrowth factorsProtein BindingSignal Transduction
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Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis

2003

Familial hypobetalipoproteinemia (FHBL) subjects may develop fatty liver. Liver fat was assessed in 21 FHBL with six different apolipoprotein B (apoB) truncations (apoB-4 to apoB-89) and 14 controls by magnetic resonance spectroscopy (MRS). Liver fat percentages were 16.7 +/- 11.5 and 3.3 +/- 2.9 (mean +/- SD) (P = 0.001). Liver fat percentage was positively correlated with body mass index, waist circumference, and areas under the insulin curves of 2 h glucose tolerance tests, suggesting that obesity may affect the severity of liver fat accumulation in both groups. Despite 5-fold differences in liver fat percentage, mean values for obesity and insulin indexes were similar. Thus, for similar…

MaleVery low-density lipoproteinSettore MED/09 - Medicina InternaApolipoprotein Bmedicine.medical_treatmentPalmitic AcidLipoproteins VLDLSeverity of Illness IndexTriglyceridevery low density lipoprotein assemblyBiochemistryBody Mass IndexMagnetic resonence spectroscopy; Nonalcoholic fatty liver; Nonesterified fatty acids; Very low density lipoprotein assembly; Adult; Body Mass Index; Dietary Fats; Fatty Liver; Female; Glucose Tolerance Test; Humans; Hypobetalipoproteinemias; Insulin Resistance; Lipoproteins VLDL; Liver Diseases; Male; Middle Aged; Obesity; Palmitic Acids; Severity of Illness Index; Triglycerides; EndocrinologyHypobetalipoproteinemiaschemistry.chemical_compoundEndocrinologyDietary FatGlucose tolerance testmedicine.diagnostic_testbiologyChemistryLiver DiseasesLiver DiseaseFatty liverMiddle AgedFemalemagnetic resonence spectroscopyHumanAdultmedicine.medical_specialtyPalmitic Acidsnonesterified fatty acidsQD415-436Internal medicinemedicinenonalcoholic fatty liverHumansObesityTriglyceridesTriglycerideInsulinNonesterified fatty acidCell BiologyGlucose Tolerance Testmedicine.diseaseDietary FatsFatty LiverEndocrinologybiology.proteinHypobetalipoproteinemiaInsulin ResistanceSteatosisHypobetalipoproteinemiaJournal of Lipid Research
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SUPRAMOLECULAR ASSOCIATION OF RECOMBINANT HUMAN GROWTH HORMONE WITH HYDROPHOBIZED POLYHYDROXYETHYLASPARTAMIDES

2008

Abstract The protein delivery properties of polymer supramolecular assemblies were investigated by using recombinant human growth hormone (rh-GH) and two polyhydroxyethylaspartamide (PHEA) derivatives: (a) PHEA-C 16 obtained by PHEA random grafting with hexadecylalkylamine; (b) PHEA-PEG 5000 -C 16 obtained by PHEA random co-grafting with hexadecylalkylamine and 5 kDa poly(ethylene glycol). The two polymers possessed similar self-assembling properties: critical micelle concentration (CMC) and particle size. The protein loading (protein/polymer, w/w, %) was 12.1 ± 1.3% and 8.5 ± 0.4% with PHEA-C 16 and PHEA-PEG 5000 -C 16 , respectively. The rh-GH/polymer association constant calculated by Sc…

Malechemistry.chemical_classificationHuman Growth HormoneSupramolecular chemistryPharmaceutical ScienceGeneral MedicinePolymerProtein delivery supramolecular assembly growth hormone polyhydroxyethylaspartamideDissociation (chemistry)Polyethylene GlycolsRatsSupramolecular assemblychemistry.chemical_compoundDrug Delivery SystemschemistryPolymer ratioCritical micelle concentrationAnimalsOrganic chemistryPeptidesDrug carrierEthylene glycolCells CulturedBiotechnologyNuclear chemistry
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Self-assembled PAA-based nanoparticles as potential gene and protein delivery systems

2012

A series of nanoparticles is prepared via layer-by-layer assembly of oppositely charged, synthetic biocompatible polyamidoamine polymers as potential carriers. Particle size, surface charge and internal chain mobility are quantified as a function of the polymer type and number of layers. The effect of addition of surfactant is examined to simulate the effects of nanoparticle dissolution. The cyctotoxicity of these particles (in epithelia and murine cell lines) are orders of magnitude lower than polyethyleneimine controls. Stable nanoparticles may be prepared from mixtures of strongly, oppositely charged polymers, but less successfully from weakly charged polymers, and, given their acceptabl…

Materials Chemistry2506 Metals and AlloysLayer-by-layer assemblyPolymers and PlasticLightRotationStatic ElectricityElectron Spin Resonance SpectroscopyGene Transfer TechniquesBioengineeringSelf-assemblyHydrogen-Ion ConcentrationBiomaterialCell LineMolecular WeightDrug Delivery SystemsNanoparticlePolyaminesAnimalsNanoparticlesScattering RadiationSpin LabelsGene deliveryParticle SizeZeta-potentialBiotechnology
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Globally Optimized Equilibrium Shapes of Zirconia-Supported Rh and Pt Nanoclusters: Insights into Site Assembly and Reactivity

2019

Metal–support interfaces form an active site for many important catalytic reactions. The modeling of these interfacial sites calls for approximations to set up a structure model, which in turn may ...

Materials science02 engineering and technology010402 general chemistry01 natural sciencesCatalysisNanoclustersTurn (biochemistry)nanorakenteetnanostructuresReactivity (chemistry)Cubic zirconiaPhysical and Theoretical ChemistryStructured modelta116ta114biologysite assemblyActive site021001 nanoscience & nanotechnology0104 chemical sciencesSurfaces Coatings and FilmsElectronic Optical and Magnetic MaterialsreactivityGeneral EnergyChemical engineeringbiology.protein0210 nano-technologyThe Journal of Physical Chemistry C
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A Columnar Liquid Crystal with Permanent Polar Order

2015

et al.

Materials scienceElectric fieldsCondensed matter physicsCrystalline materialsPolar orderSubphthalocyaninesGeneral ChemistryQuímicaPolarization (waves)Liquid crystalline materialsCondensed Matter::Soft Condensed MatterCondensed Matter::Materials ScienceDipoleCrystallographyLiquid crystalElectric fieldMaterials ChemistryMoleculePolarSelf assembly Columnar liquid crystalsLiquid Crystalline MaterialsColumnar phase
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