Search results for "Translation"

showing 10 items of 1324 documents

Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

2016

Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others…

0301 basic medicineThreonineHeredityMethyl-CpG-Binding Protein 2Genetic LinkageMutantFluorescent Antibody TechniqueSocial Scienceslcsh:MedicinePC12 CellsBiochemistryEpitopeImmunoenzyme TechniquesCell FusionNeuroblastomaFluorescence MicroscopyAnimal CellsMedicine and Health SciencesPsychologyPost-Translational ModificationPhosphorylationAmino Acidslcsh:ScienceCells CulturedCross ReactivityNeuronsStainingMicroscopyMultidisciplinaryReverse Transcriptase Polymerase Chain ReactionOrganic CompoundsCell StainingLight MicroscopyTransfectionChemistryX-Linked TraitsSex LinkagePhysical SciencesCellular TypesResearch ArticleCell signalingCell Physiologycongenital hereditary and neonatal diseases and abnormalitiesBlotting WesternImmunologyRett syndromeBiologyReal-Time Polymerase Chain ReactionResearch and Analysis MethodsMECP203 medical and health sciencesNeurologiaAntigenHydroxyl Amino Acidsmental disordersmedicineRett SyndromeGeneticsAnimalsHumansRNA MessengerClinical GeneticsHEK 293 cellsOrganic Chemistrylcsh:RChemical CompoundsBiology and Life SciencesProteinsCell Biologymedicine.diseaseMolecular biologyRatsnervous system diseases030104 developmental biologyHEK293 CellsSpecimen Preparation and TreatmentCellular NeuroscienceMutationDevelopmental PsychologyMalaltieslcsh:QNeuroscience
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Alternative Splice Forms of CYLD Mediate Ubiquitination of SMAD7 to Prevent TGFB Signaling and Promote Colitis

2018

Background & Aims The CYLD lysine 63 deubiquitinase gene (CYLD) encodes tumor suppressor protein that is mutated in familial cylindromatosus, and variants have been associated with Crohn disease (CD). Splice forms of CYLD that lack exons 7 and 8 regulate transcription factors and functions of immune cells. We examined the expression of splice forms of CYLD in colon tissues from patients with CD and their effects in mice. Methods We performed immunohistochemical analyses of colon tissues from patients with untreated CD and patients without inflammatory bowel diseases (controls). We obtained mice that expressed splice forms of CYLD (sCYLD mice) without or with SMAD7 (sCYLD/SMAD7 mice) from tr…

0301 basic medicineTranscription FactorBiopsyInbred C57BLTransgenicImmune RegulationSettore MED/12MiceRandom Allocation0302 clinical medicineCrohn DiseaseReference ValuesNeedleIntestinal Mucosaintegumentary systemChemistryBiopsy NeedleGastroenterologyT helper cellFlow CytometryPost-translational ModificationImmunohistochemistryDeubiquitinating Enzyme CYLDCysteine Endopeptidasesmedicine.anatomical_structure030211 gastroenterology & hepatologyTumor necrosis factor alphaSignal TransductionGenetically modified mouseRegulatory T cellTransgeneMice TransgenicSmad7 ProteinTransforming Growth Factor beta103 medical and health sciencesImmune systemmedicineAnimalsHumansCytokine SignalingHepatologyAnimalHEK 293 cellsUbiquitinationMolecular biologyMice Inbred C57BLDisease Models Animal030104 developmental biologyDisease ModelsCytokine Signaling; Immune Regulation; Post-translational Modification; Transcription Factor; Biopsy Needle; Crohn Disease; Cysteine Endopeptidases; Deubiquitinating Enzyme CYLD; Disease Models Animal; Flow Cytometry; Immunohistochemistry; Intestinal Mucosa; Mice Inbred C57BL; Mice Transgenic; Random Allocation; Reference Values; Signal Transduction; Smad7 Protein; Transforming Growth Factor beta1; UbiquitinationTransforming growth factorGastroenterology
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ISWI ATP-dependent remodeling of nucleoplasmic ω-speckles in the brain of Drosophila melanogaster.

2017

Heterogeneous nuclear ribonucleoproteins (hnRNPs) belong to the RNA-binding proteins family. They are involved in processing heterogeneous nuclear RNAs (hnRNAs) into mature mRNAs. These proteins participate in every step of mRNA cycle, such as mRNA export, localization, translation, stability and alternative splicing. At least 14 major hnRNPs, which have structural and functional homologues in mammals, are expressed in Drosophila melanogaster. Until now, six of these hnRNPs are known to be nucleus-localized and associated with the long non-coding RNA (lncRNA) heat shock responsive ω (hsrω) in the omega speckle compartments (ω-speckles). The chromatin remodeler ISWI is the catalytic subunit …

0301 basic medicineTranscription GeneticBiologyHeterogeneous ribonucleoprotein particleHeterogeneous-Nuclear RibonucleoproteinsNuclear body03 medical and health scienceslncRNAAdenosine TriphosphateChromatin remodelersGene expressionGeneticsOmega speckleAnimalsMolecular BiologyGeneticsAdenosine TriphosphatasesCell NucleusAlternative splicingChromatin remodelers; hnRNPs; lncRNA; Nuclear body; Omega speckles; Molecular Biology; GeneticsRNABrainTranslation (biology)biology.organism_classificationChromatin Assembly and DisassemblyhnRNPsChromatinCell biology030104 developmental biologyDrosophila melanogasterGene Expression RegulationOmega specklesDrosophila melanogasterTranscription FactorsJournal of genetics and genomics = Yi chuan xue bao
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A Trans-Omics Comparison Reveals Common Gene Expression Strategies in Four Model Organisms and Exposes Similarities and Differences between Them.

2021

AbstractThe ultimate goal of gene regulation should focus on the protein level. However, as mRNA is an obligate intermediary, and because the amounts of mRNAs and proteins are controlled by their synthesis and degradation rates, the cellular amount of a given protein can be attained following different strategies. By studying omics datasets for six expression variables (mRNA and protein amounts, plus their synthesis and decay rates), we previously demonstrated the existence of common expression strategies (CES) for functionally-related genes in the yeastSaccharomyces cerevisiae. Here we extend that study to two other eukaryotes: the distantly related yeastSchizosaccharomyces pombeand cultur…

0301 basic medicineTranscription GeneticRNA StabilityCèl·lulesSaccharomyces cerevisiaeved/biology.organism_classification_rank.speciesSaccharomyces cerevisiaeComputational biologytranscription ratetranslation rateArticle03 medical and health sciences0302 clinical medicinePhylogeneticsGene Expression Regulation FungalGene expressionHumansmRNA stabilityModel organismGenelcsh:QH301-705.5OrganismRegulation of gene expressionbiologyPhylogenetic treeved/biologyProkaryotephenogramGeneral Medicinebiology.organism_classification030104 developmental biologyprotein stabilitylcsh:Biology (General)Schizosaccharomyces pombe030217 neurology & neurosurgeryInteraccions RNA-proteïna
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Dom34 Links Translation to Protein O-mannosylation.

2016

In eukaryotes, Dom34 upregulates translation by securing levels of activatable ribosomal subunits. We found that in the yeast Saccharomyces cerevisiae and the human fungal pathogen Candida albicans, Dom34 interacts genetically with Pmt1, a major isoform of protein O-mannosyltransferase. In C. albicans, lack of Dom34 exacerbated defective phenotypes of pmt1 mutants, while they were ameliorated by Dom34 overproduction that enhanced Pmt1 protein but not PMT1 transcript levels. Translational effects of Dom34 required the 5′-UTR of the PMT1 transcript, which bound recombinant Dom34 directly at a CA/AC-rich sequence and regulated in vitro translation. Polysomal profiling revealed that Dom34 stimu…

0301 basic medicineUntranslated regionCancer ResearchGlycosylationMolecular biologyHydrolasesOligonucleotidesGene ExpressionRNA-binding proteinCell Cycle ProteinsYeast and Fungal ModelsPathology and Laboratory MedicineMannosyltransferasesBiochemistryTranscription (biology)Untranslated RegionsCandida albicansMedicine and Health SciencesProtein IsoformsGenetics (clinical)CandidaFungal PathogensNucleotidesMessenger RNACell biologyEnzymesNucleic acidsDenaturationPhenotypesPhenotypeMedical MicrobiologySaccharomyces CerevisiaePathogensResearch ArticleGene isoformSaccharomyces cerevisiae Proteinslcsh:QH426-470NucleasesSaccharomyces cerevisiaeMycologyBiologyResearch and Analysis MethodsMicrobiology03 medical and health sciencesSaccharomycesModel OrganismsRibonucleasesDownregulation and upregulationEndoribonucleasesDNA-binding proteinsGeneticsHumansGeneMicrobial PathogensEcology Evolution Behavior and Systematics030102 biochemistry & molecular biologyOrganismsFungiBiology and Life SciencesProteinsRibosomal RNAbiology.organism_classificationMolecular biologyYeastRNA denaturationlcsh:Genetics030104 developmental biologyMolecular biology techniquesProtein BiosynthesisEnzymologyRNAProtein TranslationRibosomesPLoS Genetics
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The 5′ Untranslated Region of the EFG1 Transcript Promotes Its Translation To Regulate Hyphal Morphogenesis in Candida albicans

2018

ABSTRACTExtensive 5’ untranslated regions (UTR) are a hallmark of transcripts determining hyphal morphogenesis inCandida albicans.The major transcripts of theEFG1gene, which are responsible for cellular morphogenesis and metabolism, contain a 5’ UTR of up to 1170 nt. Deletion analyses of the 5’ UTR revealed a 218 nt sequence that is required for production of the Efg1 protein and its functions in filamentation, without lowering the level and integrity of theEFG1transcript. Polysomal analyses revealed that the 218 nt 5’ UTR sequence is required for efficient translation of the Efg1 protein. Replacement of theEFG1ORF by the heterologous reporter geneCaCBGlucconfirmed the positive regulatory i…

0301 basic medicineUntranslated regionFive prime untranslated region030106 microbiologyEFG1lcsh:QR1-502Morphogenesishyphal morphogenesistranslationMicrobiologiaHeterologousContext (language use)posttranscriptional regulationBiologyMicrobiologylcsh:Microbiology03 medical and health sciences5′ UTRCandida albicansMolecular BiologyGeneReporter geneTranslation (biology)QR1-502Cell biologyfilamentationOpen reading frame030104 developmental biologyRegulatory sequencemSphere
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MicroRNAs miR-19, miR-340, miR-374 and miR-542 regulate MID1 protein expression.

2018

The MID1 ubiquitin ligase activates mTOR signaling and regulates mRNA translation. Misregulation of MID1 expression is associated with various diseases including midline malformation syndromes, cancer and neurodegenerative diseases. While this indicates that MID1 expression must be tightly regulated to prevent disease states specific mechanisms involved have not been identified. We examined miRNAs to determine mechanisms that regulate MID1 expression. MicroRNAs (miRNA) are small non-coding RNAs that recognize specific sequences in their target mRNAs. Upon binding, miRNAs typically downregulate expression of these targets. Here, we identified four miRNAs, miR-19, miR-340, miR-374 and miR-542…

0301 basic medicineUntranslated regionSmall interfering RNAPhysiologymetabolism [Microtubule Proteins]Alzheimer's DiseaseBiochemistryImmune PhysiologyMedicine and Health SciencesSmall interfering RNAsmetabolism [Transcription Factors]3' Untranslated RegionsImmune System ProteinsMultidisciplinarybiologyReverse Transcriptase Polymerase Chain ReactionMessenger RNAQRNuclear ProteinsNeurodegenerative DiseasesTranslation (biology)EnzymesUbiquitin ligaseCell biologyNucleic acidsNeurologyMicrotubule ProteinsMedicineOxidoreductasesLuciferasemetabolism [Nuclear Proteins]Research ArticleScienceUbiquitin-Protein LigasesImmunologyTransfectionResearch and Analysis MethodsReal-Time Polymerase Chain ReactionAntibodies03 medical and health sciencesMental Health and PsychiatrymicroRNAGeneticsHumansddc:610Non-coding RNAMolecular Biology TechniquesMolecular BiologyMessenger RNABiology and life sciencesThree prime untranslated regionHEK 293 cellsProteinsGene regulationphysiology [MicroRNAs]MicroRNAs030104 developmental biologyHEK293 CellsEnzymologybiology.proteinRNAProtein TranslationDementiaGene expressionTranscription FactorsMid1 protein human
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Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominan…

2017

Background Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). Methods Sanger sequencing and NGS of 112 genes (Usher syndrome, nonsyndromic deafness, overlapping conditions), MLPA, and array-CGH were conducted in 138 patients clinically diagnosed with Usher syndrome. Results A molecular diagnosis was achieved in 97% of both USH1 and USH2 patients, with biallelic mutations in 97% (USH1) and 90% (USH2), respectively. Quantitative readout reliably detected CNVs (confirmed by MLPA or array-CGH), qualifying targeted NGS as one …

0301 basic medicineUsher syndromeNonsense mutationnext‐generation sequencingBiologyGene mutationBioinformatics03 medical and health sciencessymbols.namesakeRetinitis pigmentosaGeneticsmedicineotorhinolaryngologic diseasesMultiplex ligation-dependent probe amplificationNonsyndromic deafnessMolecular BiologyGenetics (clinical)Sanger sequencingGeneticsHeimler syndromeCopy number variationPoint mutationOriginal Articlesmedicine.diseaseeye diseases030104 developmental biologysymbolsphenocopiestranslational read‐throughOriginal ArticleUsher syndromeMolecular Genetics & Genomic Medicine
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Targeting Nonsense: Optimization of 1,2,4-Oxadiazole TRIDs to Rescue CFTR Expression and Functionality in Cystic Fibrosis Cell Model Systems

2020

Cystic fibrosis (CF) patients develop a severe form of the disease when the cystic fibrosis transmembrane conductance regulator (CFTR) gene is affected by nonsense mutations. Nonsense mutations are responsible for the presence of a premature termination codon (PTC) in the mRNA, creating a lack of functional protein. In this context, translational readthrough-inducing drugs (TRIDs) represent a promising approach to correct the basic defect caused by PTCs. By using computational optimization and biological screening, we identified three new small molecules showing high readthrough activity. The activity of these compounds has been verified by evaluating CFTR expression and functionality after…

0301 basic medicineYellow fluorescent proteinCystic Fibrosisnonsense mutationCystic Fibrosis Transmembrane Conductance RegulatorCystic fibrosislcsh:Chemistry0302 clinical medicinelcsh:QH301-705.5SpectroscopyCells CulturedbiologyChemistryGeneral MedicineSmall moleculeCystic fibrosis transmembrane conductance regulatorComputer Science ApplicationsCell biologyCodon Nonsense030220 oncology & carcinogenesisNonsense mutationContext (language use)Settore BIO/11 - Biologia MolecolareCatalysisArticleInorganic Chemistry03 medical and health sciencesmedicineHumansRNA MessengerPhysical and Theoretical ChemistryMolecular BiologyGeneMessenger RNAOrganic ChemistryoxadiazolesSettore CHIM/06 - Chimica Organicapremature termination codonmedicine.diseaseSettore CHIM/08 - Chimica FarmaceuticaSettore BIO/18 - Genetica030104 developmental biologyGene Expression Regulationlcsh:Biology (General)lcsh:QD1-999translational readthrough inducing drugsProtein BiosynthesisMutationbiology.proteingenetic disorderInternational Journal of Molecular Sciences
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The histone deacetylase inhibitor SAHA induces HSP60 nitration and its extracellular release by exosomal vesicles in human lung-derived carcinoma cel…

2015

// Claudia Campanella 1, 2, * , Antonella D'Anneo 3, * , Antonella Marino Gammazza 1, 2, * , Celeste Caruso Bavisotto 1, 2 , Rosario Barone 1, 2 , Sonia Emanuele 4 , Filippa Lo Cascio 1 , Emanuele Mocciaro 1 , Stefano Fais 5 , Everly Conway De Macario 6 , Alberto J.L. Macario 2, 6 , Francesco Cappello 1, 2 , Marianna Lauricella 4 1 Department of Experimental Biomedicine and Clinical Neurosciences, Section of Human Anatomy “Emerico Luna”, University of Palermo, Palermo, Italy 2 Euro-Mediterranean Institute of Science and Technology, Palermo, Italy 3 Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, Laboratory of Biochemistry, University of Palermo, Palermo, Ita…

0301 basic medicineanimal structuresLung Neoplasmsmedicine.drug_classCell SurvivalNitrosationExosomes; Histone deacetylase inhibitor; HSP60; Oxidative stress; SAHAchemical and pharmacologic phenomenaAntineoplastic AgentsApoptosisexosomesBiologyHydroxamic Acidscomplex mixturesMitochondrial Proteins03 medical and health sciencesCell Line TumorSettore BIO/10 - BiochimicamedicineHumansoxidative stressSecretionViability assayCell ProliferationVorinostatHistone deacetylase inhibitorCell growthSettore BIO/16 - Anatomia UmanaHistone deacetylase inhibitorfungiSAHAChaperonin 60MicrovesiclesHistone Deacetylase InhibitorsExosome030104 developmental biologyOncologyApoptosisImmunologyCancer researchOxidative streHSP60Histone deacetylaseProtein Processing Post-TranslationalHSP60Research Paper
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