Search results for "Transfer"

showing 10 items of 5271 documents

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

2018

Mitochondrial disorders, characterized by clinical symptoms and/or OXPHOS deficiencies, are caused by pathogenic variants in mitochondrial genes. However, pathogenic variants in some of these genes can lead to clinical manifestations which overlap with other neuromuscular diseases, which can be caused by pathogenic variants in non-mitochondrial genes as well. Mitochondrial pathogenic variants can be found in the mitochondrial DNA (mtDNA) or in any of the 1,500 nuclear genes with a mitochondrial function. We have performed a two-step next-generation sequencing approach in a cohort of 117 patients, mostly children, in whom a mitochondrial disease-cause could likely or possibly explain the phe…

0301 basic medicineMitochondrial DNANuclear genelcsh:QH426-470DISORDERSMitochondrial diseaseBiologyMOLECULAR DIAGNOSISMtDNA sequencingDNA sequencingDISEASEDiagnostic yield03 medical and health sciencesmedicineGeneticsDNA DELETIONSGenetics(clinical)whole-exome sequencingTRANSFER-RNA-SYNTHETASELACTIC-ACIDOSISGeneGenetics (clinical)Exome sequencingOriginal ResearchGeneticsmtDNA sequencingGenetic heterogeneityMUTATIONSASSEMBLY FACTORSmedicine.diseasePhenotypeMitochondrial diseaselcsh:Geneticsmitochondrial disease030104 developmental biologyHUMAN COMPLEX-IWhole-exome sequencingdiagnostic yieldNext-generation sequencingMolecular Medicinenext-generation sequencingLEIGH-SYNDROMEFrontiers in Genetics
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Mitochondrial introgression suggests extensive ancestral hybridization events among Saccharomyces species.

2017

Horizontal gene transfer (HGT) in eukaryotic plastids and mitochondrial genomes is common, and plays an important role in organism evolution. In yeasts, recent mitochondrial HGT has been suggested between S. cerevisiae and S. paradoxus. However, few strains have been explored given the lack of accurate mitochondrial genome annotations. Mitochondrial genome sequences are important to understand how frequent these introgressions occur, and their role in cytonuclear incompatibilities and fitness. Indeed, most of the Bateson-Dobzhansky-Muller genetic incompatibilities described in yeasts are driven by cytonuclear incompatibilities. We herein explored the mitochondrial inheritance of several wor…

0301 basic medicineMitochondrial DNAParadoxusGenomeSaccharomycesHoming endonucleaseElectron Transport Complex IV03 medical and health sciencesOpen Reading FramesSaccharomycesSpecies SpecificityGeneticsMolecular BiologyGeneEcology Evolution Behavior and SystematicsPhylogenybiologyBase SequenceGeographybiology.organism_classificationReticulate evolutionMitochondria030104 developmental biologyHaplotypesEvolutionary biologyHorizontal gene transferGenome Mitochondrialbiology.proteinHybridization GeneticSaccharomyces reticulate evolution mitochondrial introgression selfish elements recombination interspecies hybridizationSequence AlignmentMolecular phylogenetics and evolution
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Functional display of an alpha2 integrin-specific motif (RKK) on the surface of baculovirus particles.

2005

The use of baculovirus vectors shows promise as a tool for gene delivery into mammalian cells. These insect viruses have been shown to transduce a variety of mammalian cell lines, and gene transfer has also been demonstrated in vivo. In this study, we generated two recombinant baculovirus vectors displaying an integrin-specific motif, RKK, as a part of two different loops of the green fluorescent protein (GFP) fused with the major envelope protein gp64 of Autographa californica M nucleopolyhedrovirus. By enzyme linked immunosorbent assays, these viruses were shown to bind a peptide representing the receptor binding site of an α2 integrin, the α2I-domain. However, the interaction was not st…

0301 basic medicineModels MolecularCancer ResearchInsectavirusesmedia_common.quotation_subjectAmino Acid MotifsGreen Fluorescent ProteinsIntegrin alpha2PeptideEnzyme-Linked Immunosorbent AssayCHO CellsBiologyGene deliveryGreen fluorescent proteinCell Line03 medical and health sciences0302 clinical medicineCricetinaeAnimalsCloning MolecularInternalizationmedia_commonchemistry.chemical_classificationMicroscopy ConfocalPhospholipase CWild typeGene Transfer Techniquesbiology.organism_classificationFlow CytometryMolecular biologyRecombinant ProteinsProtein Structure TertiaryAutographa californica030104 developmental biologyEnzymeOncologychemistryMicroscopy FluorescenceMutagenesis030220 oncology & carcinogenesisType C PhospholipasesElectrophoresis Polyacrylamide GelPeptidesBaculoviridaeViral Fusion ProteinsPlasmidsProtein BindingTechnology in cancer researchtreatment
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On the (un)coupling of the chromophore, tongue interactions, and overall conformation in a bacterial phytochrome

2018

Phytochromes are photoreceptors in plants, fungi, and various microorganisms and cycle between metastable red light-absorbing (Pr) and far-red light-absorbing (Pfr) states. Their light responses are thought to follow a conserved structural mechanism that is triggered by isomerization of the chromophore. Downstream structural changes involve refolding of the so-called tongue extension of the phytochrome-specific GAF-related (PHY) domain of the photoreceptor. The tongue is connected to the chromophore by conserved DIP and PRXSF motifs and a conserved tyrosine, but the role of these residues in signal transduction is not clear. Here, we examine the tongue interactions and their interplay with …

0301 basic medicineModels MolecularCrystallography X-RayBiochemistrybakteeritProtein structurephotoconversionchromophore-binding domainTransferasestructural biologyCRYSTAL-STRUCTURETyrosineDEINOCOCCUS-RADIODURANSbiologyPhytochromeChemistryREARRANGEMENTSProtein Structure and FoldingDeinococcusmutagenesisBinding domainSignal TransductionMODULEPLANT PHYTOCHROMEPhenylalaninefotobiologia03 medical and health sciencesBacterial Proteinsprotein conformationcell signalingprotein structureBACTERIOPHYTOCHROMEMolecular BiologyX-ray crystallographysoluviestintäphytochromeAGP1BINDING DOMAINBinding Sitesta114030102 biochemistry & molecular biologyta1182Deinococcus radioduransCell BiologyChromophorebiology.organism_classificationphotoreceptor030104 developmental biologyStructural biologyFTIRBiophysicsTyrosineproteiinit3111 Biomedicineröntgenkristallografia
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Probing Differential Binding Mechanisms of Phenylalanine-Glycine-Rich Nucleoporins by Single-Molecule FRET

2018

Abstract Phenylalanine-glycine-rich nucleoporins (FG-Nups) are intrinsically disordered proteins, constituting the selective barrier of the nuclear pore complex. They are highly dynamic under physiological conditions and studying their interaction with nuclear transport receptors (NTRs) is key to understanding the molecular mechanism of nucleocytoplasmic transport. Distinct conformational features of FG-Nups interacting with diverse NTRs can be detected by multiparameter single-molecule fluorescence energy transfer (smFRET), which is a powerful technique for studying the dynamics and interactions of biomolecules in solution. Here we provide a detailed protocol utilizing smFRET to reveal dif…

0301 basic medicineModels MolecularGlycosylationProtein ConformationPhenylalanineGlycineIntrinsically disordered proteinsArticle03 medical and health scienceschemistry.chemical_compoundFluorescence Resonance Energy TransferAnimalsHumansNuclear porechemistry.chemical_classificationBiomoleculeSingle-molecule FRETEquipment DesignIntrinsically Disordered ProteinsNuclear Pore Complex Proteins030104 developmental biologychemistryNucleocytoplasmic TransportBiophysicsNucleoporinNuclear transportProtein BindingIntrinsically Disordered Proteins
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Two differential binding mechanisms of FG-nucleoporins and nuclear transport receptors

2018

Summary Phenylalanine-glycine-rich nucleoporins (FG-Nups) are intrinsically disordered proteins, constituting the selective barrier of the nuclear pore complex (NPC). Previous studies showed that nuclear transport receptors (NTRs) were found to interact with FG-Nups by forming an “archetypal-fuzzy” complex through the rapid formation and breakage of interactions with many individual FG motifs. Here, we use single-molecule studies combined with atomistic simulations to show that, in sharp contrast, FG-Nup214 undergoes a coupled reconfiguration-binding mechanism when interacting with the export receptor CRM1. Association and dissociation rate constants are more than an order of magnitude lowe…

0301 basic medicineModels MolecularGlycosylationglycosylationProtein ConformationPhenylalanineGlycineSequence (biology)Intrinsically disordered proteinsnuclear transport receptorssingle-molecule FRETGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEscherichia coliFluorescence Resonance Energy TransferHumansNuclear poreReceptorlcsh:QH301-705.5Single-molecule FRETmolecular dynamics simulationsbinding mechanismintrinsically disordered proteinFG-Nup3. Good healthNuclear Pore Complex Proteins030104 developmental biologychemistrylcsh:Biology (General)BiophysicsNuclear PoreNucleoporinNuclear transport030217 neurology & neurosurgeryProtein BindingCell Reports
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Kinetic evidence for interaction of TMPyP4 with two different G-quadruplex conformations of human telomeric DNA

2018

Background: Stabilization of G-quadruplex helices by small ligands has attracted growing attention because they inhibit the activity of the enzyme telomerase, which is overexpressed in> 80% cancer cells. TMPyP4, one of the most studied G-quadruplex ligands, is used as a model to show that the ligands can exhibit different binding features with different conformations of a human telomeric specific sequence. Methods: UV–Vis, FRET melting Assay, Isothermal Titration Calorimetry, Time-resolved Fluorescence lifetime, T-Jump and Molecular Dynamics. Results: TMPyP4 yields two different complexes with two Tel22 telomeric conformations in the presence of Na+ or K+. T-Jump kinetic experiments show th…

0301 basic medicineModels MolecularReaction mechanismMolecular dynamicPorphyrinsFast reactionsBiophysicsStackingTel22 conformationsMolecular dynamicsBuffersCalorimetryMolecular Dynamics SimulationG-quadruplexLigandsNucleic Acid DenaturationBiochemistryDissociation (chemistry)Chemistry Physical and theoretical03 medical and health sciencesMolecular dynamicsQuímica físicaFluorescence Resonance Energy TransferHumansFast reactionMolecular BiologyTMPyP4ChemistryTel22 conformationIsothermal titration calorimetryTelomereSmall moleculeG-QuadruplexesCrystallographyKinetics030104 developmental biologyFörster resonance energy transferOligodeoxyribonucleotidesBiophysicSettore CHIM/03 - Chimica Generale E InorganicaPotassiumNucleic Acid ConformationThermodynamicsSpectrophotometry Ultraviolet
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Extracellular non-coding RNA signatures of the metacestode stage of Echinococcus multilocularis

2020

Extracellular RNAs (ex-RNAs) are secreted by cells through different means that may involve association with proteins, lipoproteins or extracellular vesicles (EV). In the context of parasitism, ex-RNAs represent new and exciting communication intermediaries with promising potential as novel biomarkers. In the last years, it was shown that helminth parasites secrete ex-RNAs, however, most work mainly focused on RNA secretion mediated by EV. Ex-RNA study is of special interest in those helminth infections that still lack biomarkers for early and/or follow-up diagnosis, such as echinococcosis, a neglected zoonotic disease caused by cestodes of the genus Echinococcus. In this work, we have char…

0301 basic medicineMolecular biologyPhysiologyRC955-962FlatwormsBiochemistry//purl.org/becyt/ford/1 [https]MiceMedical ConditionsSequencing techniques0302 clinical medicineArctic medicine. Tropical medicineMedicine and Health SciencesNanotechnologybiologyHigh-Throughput Nucleotide SequencingEukaryotaRNA sequencingNon-coding RNACell biologyNucleic acidsInfectious DiseasesHelminth InfectionsEngineering and TechnologyPublic aspects of medicineRA1-1270Transfer RNAResearch ArticleNeglected Tropical Diseases030231 tropical medicinemultilocularisContext (language use)Real-Time Polymerase Chain ReactionEchinococcus multilocularisHost-Parasite InteractionsExtracellular Vesicles03 medical and health sciencesEchinococcosisHelminthsGeneticsParasitic DiseasesExtracellularAnimalsHumansSecretion//purl.org/becyt/ford/1.6 [https]Non-coding RNASecretionNatural antisense transcriptsBiology and life sciencesSequence Analysis RNAOrganismsPublic Health Environmental and Occupational HealthRNATropical Diseasesbiology.organism_classificationInvertebratesGene regulationEchinococcusResearch and analysis methodsMicroRNAsMetacestodeMolecular biology techniques030104 developmental biologyEchinococcusCulture Media ConditionedNanoparticlesRNAEchinococcus multilocularisGene expressionPhysiological ProcessesZoologyBiomarkersPLOS Neglected Tropical Diseases
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Identification of the Privileged Position in the Imidazo[1,2-a]pyridine Ring of Phosphonocarboxylates for Development of Rab Geranylgeranyl Transfera…

2017

Members of the Rab GTPase family are master regulators of vesicle trafficking. When disregulated, they are associated with a number of pathological states. The inhibition of RGGT, an enzyme responsible for post-translational geranylgeranylation of Rab GTPases represents one way to control the activity of these proteins. Because the number of molecules modulating RGGT is limited, we combined molecular modeling with biological assays to ascertain how modifications of phosphonocarboxylates, the first reported RGGT inhibitors, rationally improve understanding of their structure-activity relationship. We have identified the privileged position in the core scaffold of the imidazo[1,2-a]pyridine r…

0301 basic medicineMolecular modelPyridinesOrganophosphonatesProtein PrenylationAntineoplastic AgentsGTPase01 natural sciencesHeLa03 medical and health sciencesStructure-Activity RelationshipGeranylgeranylationPrenylationDrug DiscoveryStructure–activity relationshipHumansEnzyme Inhibitorsta116Cell Proliferationchemistry.chemical_classificationAlkyl and Aryl Transferasesbiology010405 organic chemistryrab geranylgeranyl transferaseta1182biology.organism_classification0104 chemical sciencesCell biologyMolecular Docking Simulation030104 developmental biologyEnzymechemistryBiochemistryrab GTP-Binding ProteinsMolecular MedicineRabHeLa CellsJournal of Medicinal Chemistry
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Stable radical anions generated from a porous perylenediimide metal-organic framework for boosting near-infrared photothermal conversion

2019

Radical anions of electron-deficient systems are widely used, but are easily reoxidized upon exposure to air. Therefore, the stabilization of radical anions under ambient conditions is of great significance, but still remains a scientific challenge. Herein, perylenediimide is employed to prepare a crystalline metal-organic framework for stabilizing radical anions without extensive chemical modification. The porous, three-dimensional framework of perylenediimide can trap electron donors such as amine vapors and produce radical anions in-situ through photo-induced electron transfer. The radical anions are protected against quenching by shielding effect in air and remain unobstructed in air fo…

0301 basic medicineMultidisciplinaryMaterials scienceScienceQNear-infrared spectroscopyGeneral Physics and AstronomyChemical modification02 engineering and technologyGeneral ChemistryPhotothermal therapy021001 nanoscience & nanotechnologyPhotochemistryArticleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesElectron transfer030104 developmental biologyShielding effectMetal-organic frameworkAmine gas treatinglcsh:Q0210 nano-technologyPorositylcsh:ScienceNature Communications
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