Search results for "binding"

showing 10 items of 3896 documents

Genetic and Chemical Modifiers Of A CUG Toxicity Model in Drosophila

2007

Non-coding CUG repeat expansions interfere with the activity of human Muscleblind-like (MBNL) proteins contributing to myotonic dystrophy 1 (DM1). To understand this toxic RNA gain-of-function mechanism we developed a Drosophila model expressing 60 pure and 480 interrupted CUG repeats in the context of a non-translatable RNA. These flies reproduced aspects of the DM1 pathology, most notably nuclear accumulation of CUG transcripts, muscle degeneration, splicing misregulation, and diminished Muscleblind function in vivo. Reduced Muscleblind activity was evident from the sensitivity of CUG-induced phenotypes to a decrease in muscleblind genetic dosage and rescue by MBNL1 expression, and furthe…

congenital hereditary and neonatal diseases and abnormalitiesGene Dosagelcsh:MedicineRNA-binding proteinBiologyEyechemistry.chemical_compoundTrinucleotide RepeatsAnimalsDrosophila ProteinsMyotonic DystrophyMBNL1lcsh:ScienceGeneGenetics and Genomics/Genetics of DiseaseGeneticsMessenger RNADNA Repeat ExpansionMultidisciplinaryAlternative splicinglcsh:RBrainNuclear ProteinsRNA-Binding ProteinsRNAPhenotypeCell biologyDisease Models AnimalGenetics and Genomics/Disease ModelschemistryRNA splicingDrosophilalcsh:QGenèticaResearch Article
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Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.

2004

AbstractPolyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for the neuronal toxicity associated with Huntington's disease (HD). Although wild-type huntingtin possesses antiapoptotic properties, the relationship between the neuroprotective functions of huntingtin and pathogenesis of HD remains unclear. Here, we show that huntingtin specifically enhances vesicular transport of brain-derived neurotrophic factor (BDNF) along microtubules. Huntingtin-mediated transport involves huntingtin-associated protein-1 (HAP1) and the p150Glued subunit of dynactin, an essential component of molecular motors. BDNF transport is attenuated both in the disease context and b…

congenital hereditary and neonatal diseases and abnormalitiesHuntingtinCell SurvivalContext (language use)Nerve Tissue ProteinsMicrotubulesModels BiologicalGeneral Biochemistry Genetics and Molecular BiologyMiceNeurotrophic factorsmental disordersHuntingtin ProteinAnimalsCells CulturedNeuronsHuntingtin ProteinbiologyBiochemistry Genetics and Molecular Biology(all)Huntingtin-associated protein 1Brain-Derived Neurotrophic FactorCytoplasmic VesiclesBrainNuclear ProteinsBiological TransportDynactin ComplexCell biologynervous system diseasesVesicular transport proteinDNA-Binding ProteinsBiochemistrynervous systembiology.proteinDynactinMicrotubule-Associated ProteinsNeurotrophinCell
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Huntingtin mediates dendritic transport of β-actin mRNA in rat neurons

2011

Transport of mRNAs to diverse neuronal locations via RNA granules serves an important function in regulating protein synthesis within restricted sub-cellular domains. We recently detected the Huntington's disease protein huntingtin (Htt) in dendritic RNA granules; however, the functional significance of this localization is not known. Here we report that Htt and the huntingtin-associated protein 1 (HAP1) are co-localized with the microtubule motor proteins, the KIF5A kinesin and dynein, during dendritic transport of β-actin mRNA. Live cell imaging demonstrated that β-actin mRNA is associated with Htt, HAP1, and dynein intermediate chain in cultured neurons. Reduction in the levels of Htt, H…

congenital hereditary and neonatal diseases and abnormalitiesHuntingtinDyneinModels NeurologicalBiological Transport ActiveKinesinsRNA-binding proteinNerve Tissue Proteinsmacromolecular substancesBiologyCytoplasmic GranulesMicrotubulesArticle03 medical and health sciences0302 clinical medicineMicrotubulemental disordersProtein biosynthesisMRNA transportAnimalsRNA MessengerRNA Small InterferingRats WistarCells Cultured030304 developmental biologyNeurons0303 health sciencesHuntingtin ProteinMultidisciplinaryMolecular Motor ProteinsBrainDyneinsNuclear ProteinsRNA-Binding ProteinsDendritesActinsCell biologynervous system diseasesRatsDendritic transportnervous systemGene Knockdown TechniquesKinesinFemale030217 neurology & neurosurgerySignal TransductionScientific Reports
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In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models

2011

6 pages, 5 figures. PMID:21730182[PubMed] PMCID: PMC3141925[Available on 2012/1/19]

congenital hereditary and neonatal diseases and abnormalitiesProtein ConformationRNA-binding proteinProtein Serine-Threonine KinasesBiologyMyotonic dystrophyMyotonin-Protein Kinasedrug discoveryMicechemistry.chemical_compoundnon-coding RNA diseasePeptide Librarymedicinal chemistryDrug DiscoveryGene expressionmedicineAnimalsMyotonic DystrophyMBNL1MultidisciplinaryMusclesdisease modelAlternative splicingRNA-Binding ProteinsRNADystrophyBiological Sciencesmedicine.diseaseRNA secondary structureMolecular biologyDNA-Binding ProteinschemistryRNA splicingDrosophilaTrinucleotide Repeat ExpansionOligopeptides
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Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotoni…

2018

ABSTRACT Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats. Pathogenic DMPK RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations in metabolism of various RNAs. Cardiac dysfunction represents the second most common cause of death in DM type 1 (DM1) patients. However, the contribution of MBNL sequestration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), the Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resem…

congenital hereditary and neonatal diseases and abnormalitiesRNA StabilityNeuroscience (miscellaneous)Medicine (miscellaneous)MuscleblindGeneral Biochemistry Genetics and Molecular BiologyImmunology and Microbiology (miscellaneous)AnimalsDrosophila ProteinsMyotonic DystrophyMyocytes CardiacRNA MessengerDaunorubicinCorrectionNuclear ProteinsReproducibility of ResultsHeartSurvival AnalysisAlternative SplicingDisease Models AnimalDrosophila melanogasterTrinucleotide repeat disorderDrosophilaTrinucleotide Repeat ExpansionResearch ArticleProtein BindingDisease Models & Mechanisms
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Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.

2019

Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can exert toxic functions by trapping RNA-binding proteins. While few examples of proteins that aberrantly bind to mutant HTT RNA and execute abnormal function in conjunction with the CAG repeat RNA have been described, an unbiased approach to identify the interactome of mutant HTT RNA is missing. Here, we describe the analysis of proteins that preferentially bind mutant HTT RNA using a mass spectrometry approach. We show that (I) the majority of proteins captured by mutant…

congenital hereditary and neonatal diseases and abnormalitiesSpliceosomeHuntingtinRNA SplicingMutantRNA-binding proteinRNA-binding proteinsBiologygenetics [Huntington Disease]Structural Biologymental disordersmedicineAnimalsHumansddc:610genetics [RNA]Molecular BiologyGeneHuntingtin Proteingenetics [Spliceosomes]CAG repeat RNANeurodegenerationneurodegenerationRNAgenetics [Huntingtin Protein]medicine.diseasenervous system diseasesCell biologypolyglutamine diseaseHuntington Diseasenervous systemCardiovascular and Metabolic DiseasesRNA splicingSpliceosomesgenetics [RNA Splicing]RNATechnology PlatformsspliceosomeJournal of molecular biology
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An efficient Escherichia coli expression system for the production of a functional N-terminal domain of the T1R3 taste receptor.

2012

http://www.landesbioscience.com/; International audience; Sweet taste is mediated by a dimeric receptor composed of two distinct subunits, T1R2 and T1R3, whereas the T1R1/T1R3 receptor is involved in umami taste perception. The T1R1, T1R2, and T1R3 subunits are members of the small family of class C G protein-coupled receptors (GPCRs). The members of this family are characterized by a large N-terminal domain (NTD), which is structurally similar to bacterial periplasmic-binding proteins and contains the primary ligand-binding site. In a recent study, we described a strategy to produce a functional dimeric human T1R3-NTD. Although the protein was expressed as inclusion bodies (IBs) using the …

congenital hereditary and neonatal diseases and abnormalitiesTastesweetener[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionumami receptorBioengineeringBiologymedicine.disease_causeApplied Microbiology and BiotechnologyInclusion bodieslaw.inventiontasteGPCRTaste receptorlawexpressionmedicineEscherichia coliFood and NutritionReceptorbacteriaEscherichia coliG protein-coupled receptorLigand binding assaysweet receptorGeneral MedicineBiochemistrysugarAlimentation et NutritionRecombinant DNA[SDV.AEN]Life Sciences [q-bio]/Food and Nutritionrecombinant proteinBiotechnology
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Substrate specificity overlap and interaction between Adrenoleukodystrophy protein (ALDP/ABCD1) and Adrenoleukodystrophy-related protein (ALDRP/ABCD2)

2011

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes a peroxisomal member of the ATP-binding cassette (ABC) transporter subfamily D called ALDP. ALDP is supposed to function as a homodimer allowing the entry of CoA-esters of very-long chain fatty acids (VLCFA) into the peroxisome, the unique site of their β-oxidation. ALDP deficiency can be corrected by overexpression of ALDRP, its closest homolog. However, the exact nature of the substrates transported by ALDRP and its relationships with ALDP still remain unclear. To gain insight into the function of ALDRP, we used cell models allowing the induction in a dose-dependent m…

congenital hereditary and neonatal diseases and abnormalitiesendocrine system diseasesATP-binding cassette transportermembrane proteinsBiologyATP Binding Cassette Transporter Subfamily DBiochemistry03 medical and health sciences0302 clinical medicineabc transporterCell Line TumormedicineAnimals[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Molecular BiologyBeta oxidationfatty acid oxidation030304 developmental biologychemistry.chemical_classification0303 health sciencesadrenoleukodystrophyabc transporter;fatty acid;fatty acid oxidation;membrane proteins;peroxisomes;adrenoleukodystrophyFatty AcidsNeurosciencesWild typeFatty acidnutritional and metabolic diseasesperoxisomesCell BiologyPeroxisomemedicine.diseaseLipidsRatschemistryMembrane proteinBiochemistry[ SDV.NEU ] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neurons and CognitionATP-Binding Cassette TransportersAdrenoleukodystrophy[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]fatty acidOxidation-Reduction030217 neurology & neurosurgeryPolyunsaturated fatty acid
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Evidence of oxidative stress in very long chain fatty acid--treated oligodendrocytes and potentialization of ROS production using RNA interference-di…

2011

X-linked adrenoleukodystrophy (X-ALD) and pseudo neonatal adrenoleukodystrophy (P-NALD) are neurodegenerative demyelinating diseases resulting from the functional loss of the peroxisomal ATP-binding cassette transporter D (ABCD1) and from single peroxisomal enzyme deficiency (Acyl-CoA oxidase1: ACOX1), respectively. As these proteins are involved in the catabolism of very long chain fatty acids (VLCFA: C24:0, C26:0), X-ALD and P-NALD patients are characterized by the accumulation of VLCFA in plasma and tissues. Since peroxisomes are involved in the metabolism of reactive oxygen species (ROS) and nitrogen species (RNS), we examined the impact of VLCFA on the oxidative status of 158N murine o…

congenital hereditary and neonatal diseases and abnormalitiesendocrine systemendocrine system diseasesVery long chain fatty acidBlotting Westernmedicine.disease_causeReal-Time Polymerase Chain ReactionTransfectionATP Binding Cassette Transporter Subfamily D Member 1Gas Chromatography-Mass SpectrometrySuperoxide dismutaseLipid peroxidationchemistry.chemical_compoundMicemedicinePeroxisomesAnimalsAdrenoleukodystrophyCells Culturedchemistry.chemical_classificationReactive oxygen speciesbiologyReverse Transcriptase Polymerase Chain ReactionGeneral NeuroscienceFatty Acidsnutritional and metabolic diseasesPeroxisomemedicine.diseaseFlow CytometryOligodendrogliaOxidative StressBiochemistrychemistryGene Knockdown Techniquesbiology.proteinACOX1AdrenoleukodystrophyATP-Binding Cassette TransportersRNA InterferenceAcyl-CoA OxidaseReactive Oxygen SpeciesOxidation-ReductionOxidative stressNeuroscience
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Reliable Correlational Cuing While Controlling for Most-Recent-Pairing Effects.

2020

Irrelevant aspects of the environment or irrelevant attributes of task-relevant stimuli can have important and reliable effects on behavior. When the specific values of an irrelevant stimulus attribute are correlated with different responses, a correlational-cuing effect is observed: faster and more accurate responses when the correlation is positive than when it is negative. Previous work has shown that this effect is not due to simple differences in how often the specific stimuli are being presented, and most explanations of the effect have stressed the clear parallels with classical associative learning. Very recently, however, evidence in favor of an alternative model has been presented…

contingencies05 social scienceslcsh:BF1-990stimulus-response bindingStimulus (physiology)Brief Research Reportassociative learning050105 experimental psychologyAssociative learningCorrelation03 medical and health sciences0302 clinical medicineStimulus–response modellcsh:PsychologyPairingPsychology0501 psychology and cognitive sciencescontingency learningPsychologycorrelational cuing030217 neurology & neurosurgeryGeneral PsychologyCognitive psychologyFrontiers in psychology
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