Search results for "Llum"

showing 10 items of 570 documents

Critical re-evaluation of neuroglobin expression reveals conserved patterns among mammals.

2016

Neuroglobin (Ngb) is a respiratory protein that is almost exclusively expressed in the vertebrate nervous system. Despite many years of research, the exact function and even the expression sites of Ngb are still a matter of debate. However, to investigate hypotheses surrounding the potential roles of Ngb, a detailed knowledge of its major and minor expression sites is indispensable. We have therefore evaluated Ngb expression by extensive bioinformatic analysis using publicly available transcriptome data (RNA-Seq). During mammalian brain development, we observed low embryonic expression of Ngb mRNA and an increase after birth, arguing against a role of Ngb in fetal hypoxia tolerance. In adul…

0301 basic medicineNervous systemCerebellumHypothalamusHippocampusNeuroglobinNerve Tissue ProteinsBiologyHippocampusTranscriptome03 medical and health sciencesMiceCerebellummedicineAnimalsRNA MessengerCerebral CortexMammalsNeuronsMessenger RNAGeneral NeuroscienceMolecular biologyCell biologyGlobinsRespiratory protein030104 developmental biologymedicine.anatomical_structureCerebral cortexNeuroglobinNeuroscience
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Chronic hyperammonemia alters extracellular glutamate, glutamine and GABA and membrane expression of their transporters in rat cerebellum. Modulation…

2018

Trafficking of glutamate, glutamine and GABA between astrocytes and neurons is essential to maintain proper neurotransmission. Chronic hyperammonemia alters neurotransmission and cognitive function. The aims of this work were to analyze in cerebellum of rats the effects of chronic hyperammonemia on: a) extracellular glutamate, glutamine and GABA concentrations; b) membrane expression of glutamate, glutamine and GABA transporters; c) how they are modulated by extracellular cGMP. Hyperammonemic rats show increased levels of extracellular glutamate, glutamine, GABA and citrulline in cerebellum in vivo. Hyperammonemic rats show: a) increased membrane expression of the astrocytic glutamine trans…

0301 basic medicineNeurotransmitter transporterMaleGlutamineGlutamate-glutamine cycleGlutamic AcidNeurotransmissionSynaptic Transmission03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineCerebellumNeurotransmitter Transport ProteinsmedicineExtracellularGABA transporterAnimalsHyperammonemiaRats WistarCyclic GMPgamma-Aminobutyric AcidPharmacologybiologyChemistryCell MembraneGlutamate receptorHyperammonemiamedicine.diseaseCell biologyRatsGlutamine030104 developmental biologynervous systembiology.proteinCitrullineExtracellular Space030217 neurology & neurosurgeryNeuropharmacology
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Encephalitis with Autoantibodies against the Glutamate Kainate Receptors GluK2

2021

OBJECTIVE: The objective of this study was to report the identification of antibodies against the glutamate kainate receptor subunit 2 (GluK2-abs) in patients with autoimmune encephalitis, and describe the clinical-immunological features and antibody effects. METHODS: Two sera from 8 patients with similar rat brain immunostaining were used to precipitate the antigen from neuronal cultures. A cell-based assay (CBA) with GluK2-expressing HEK293 cells was used to assess 596 patients with different neurological disorders, and 23 healthy controls. GluK2-ab effects were determined by confocal microscopy in cultured neurons and electrophysiology in GluK2-expressing HEK293 cells. RESULTS: Patients'…

0301 basic medicinePathologymedicine.medical_specialtyAutoimmunityKainate receptor03 medical and health sciences0302 clinical medicineReceptors Kainic AcidAntigenCerebellummedicineAnimalsHumansReceptorencephalitis ; autoantibodies ; GluK2AutoantibodiesNeuronsAutoimmune encephalitisbiologyAutoimmunitatbusiness.industryAutoantibodyGlutamate receptorEncefalitismedicine.diseaseRatsHEK293 Cells030104 developmental biologyNeurologybiology.proteinEncephalitisNeurology (clinical)Antibodybusiness030217 neurology & neurosurgeryEncephalitisAnnals of Neurology
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Statistically robust methylation calling for whole-transcriptome bisulfite sequencing reveals distinct methylation patterns for mouse RNAs

2017

AbstractCytosine-5 RNA methylation plays an important role in several biologically and pathologically relevant processes. However, owing to methodological limitations, the transcriptome-wide distribution of this mark has remained largely unknown. We previously established RNA bisulfite sequencing as a method for the analysis of RNA cytosine-5 methylation patterns at single-base resolution. More recently, next-generation sequencing has provided opportunities to establish transcriptome-wide maps of this modification. Here we present a computational approach that integrates tailored filtering and data-driven statistical modeling to eliminate many of the artifacts that are known to be associate…

0301 basic medicineRNA methylationBisulfite sequencingMethodComputational biologyBiologyTranscriptome03 medical and health sciencesMiceRNA modificationsRNA TransferRNA Ribosomal 28SGeneticsm5CAnimalsHumansRNA MessengerRNA Processing Post-TranscriptionalRNA-Directed DNA MethylationBisulfite sequencingGenetics (clinical)GeneticsHigh-Throughput Nucleotide SequencingRNAMethyltransferasesMethylationRibosomal RNADNA Methylation030104 developmental biologyTransfer RNADNA methylationIllumina Methylation AssayTranscriptome
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Shelf life study of healthy pork liver pate with added seaweed extracts from Ascophyllum nodosum, Fucus vesiculosus and Bifurcaria bifurcata

2018

The effect of the addition of seaweed extracts from three brown algae species [Ascophyllum nodosum (AN), Fucus vesiculosus (FV) and Bifurcaria bifurcata (BB which are a great source of natural antioxidants, on the oxidative stability of refrigerated low-fat pork liver pates was studied. In the studied pates, half of pork fat was replaced with a mixture consisting of canola and high-oleic sunflower oil (75:25, v/v), thus improving their fatty acid profile in terms of polyunsaturated fatty acids (PUFA). In order to avoid the oxidation of PUFA in the new samples, seaweed extracts (500 ppm) were added. In addition, some samples were formulated with a synthetic antioxidant (BHT at 50 ppm) (BHT) …

0301 basic medicineTime FactorsAntioxidantBifurcaria bifurcatamedicine.medical_treatmentSus scrofaAntioxidantsRefrigerationHealthy pateSunflower OilFood scienceDiet Fat-RestrictedAscophyllumchemistry.chemical_classificationbiologyChemistryAscophyllum nodosumFucus vesiculosus04 agricultural and veterinary sciences040401 food scienceMeat ProductsVolatile compoundsNutritive ValueOxidation-ReductionPolyunsaturated fatty acidfood.ingredientSeaweed extractsFucus vesiculosusShelf life03 medical and health sciences0404 agricultural biotechnologyfoodFood PreservationmedicineTBARSAnimalsOxidative stabilityVolatile Organic Compounds030109 nutrition & dieteticsSunflower oilFatty acidSeaweedbiology.organism_classificationRed MeatFucusFood MicrobiologyFood PreservativesRapeseed OilAscophyllumFood Science
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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

2018

AbstractBackground:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.Methods:A total of 164 samples, previously analyzed with well-established “reference” methods for t…

0301 basic medicineValidation studycongenital hereditary and neonatal diseases and abnormalitiesCertification[SDV]Life Sciences [q-bio]Clinical BiochemistrySequencing dataCFTR molecular diagnosiCystic Fibrosis Transmembrane Conductance RegulatorComputational biology030105 genetics & heredityBiologyCFTR molecular diagnosisDNA sequencingIn vitro diagnosticCftr genecystic fibrosis03 medical and health sciencesHumanscystic fibrosiCE-IVD certificationBiochemistry (medical)Reproducibility of ResultsIllumina miseqSequence Analysis DNAGeneral MedicineMolecular analysisEurope030104 developmental biologyMulticenter studycomparative sequencing analysicomparative sequencing analysisMutationnext-generation sequencingMultiplex Polymerase Chain Reaction
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A widely used sampling device in colorectal cancer screening programmes allows for large-scale microbiome studies.

2018

We read with interest the article by Passamonti et al ,1 reporting the performance of two different faecal immunochemical tests (FITs) highlighting the importance of standardisation and validation of screening methodologies. Conventionally, laboratory-based FIT is the preferred approach in testing for occult blood in faeces, which includes colorectal cancer screening programmes.2–4 The potential of preserving stable faecal samples in a widely used FIT buffer for microbiome research would enable prospective microbiome studies in generally healthy subjects undergoing colorectal cancer screening. For this purpose, we evaluated faecal sample stability in the commonly used OC-Sensor (Eiken Chemi…

0301 basic medicineVeterinary medicine2312BiologySampling device03 medical and health sciencesHemoglobins0302 clinical medicineHumansMass Screening1506Microbiomecolonic microfloraEarly Detection of CancerMicrobiotaGastroenterologyHealthy subjectsIllumina miseqIon semiconductor sequencingPostScriptSample stabilityGastrointestinal Microbiome030104 developmental biologyColorectal cancer screeningMetagenomicsOccult Bloodepidemiology030211 gastroenterology & hepatologyGuaiacColorectal NeoplasmsGut
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High-Throughput Mapping of 2′-O-Me Residues in RNA Using Next-Generation Sequencing (Illumina RiboMethSeq Protocol)

2017

Detection of RNA modifications in native RNAs is a tedious and laborious task, since the global level of these residues is low and most of the suitable physico-chemical methods require purification of the RNA of interest almost to homogeneity. To overcome these limitations, methods based on RT-driven primer extension have been developed and successfully used, sometimes in combination with a specific chemical treatment. Nowadays, some of these approaches have been coupled to high-throughput sequencing technologies, allowing the access to transcriptome-wide data. RNA 2'-O-methylation is one of the ubiquitous nucleotide modifications found in many RNA types from bacteria, archaea, and eukarya.…

0301 basic medicinechemistry.chemical_classificationbiologyComputer science2'-O-methylationRNAComputational biology010402 general chemistrybiology.organism_classification01 natural sciencesPrimer extensionDNA sequencing0104 chemical sciences03 medical and health sciences030104 developmental biologychemistryRNA modificationDECIPHERNucleotideLigationProtocol (object-oriented programming)Throughput (business)Illumina dye sequencingBacteriaArchaea
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MECP2 impairs neuronal structure by regulating KIBRA

2016

Using a Drosophila model of MECP2 gain-of-function, we identified memory associated KIBRA as a target of MECP2 in regulating dendritic growth. We found that expression of human MECP2 increased kibra expression in Drosophila, and targeted RNAi knockdown of kibra in identified neurons fully rescued dendritic defects as induced by MECP2 gain-of-function. Validation in mouse confirmed that Kibra is similarly regulated by Mecp2 in a mammalian system. We found that Mecp2 gain-of-function in cultured mouse cortical neurons caused dendritic impairments and increased Kibra levels. Accordingly, Mecp2 loss-of-function in vivo led to decreased Kibra levels in hippocampus, cortex, and cerebellum. Togeth…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesCerebellumMethyl-CpG-Binding Protein 2Dendritic morphologyHippocampusDisease modelsHippocampusArticlelcsh:RC321-571MECP2Mice03 medical and health sciencesMemoryRNA interferencemental disordersmedicineAnimalsHumanslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryCerebral CortexNeuronsGene knockdownMECP2 duplication syndromebiologybiology.organism_classificationMECP2nervous system diseasesCortex (botany)Disease Models AnimalDrosophila melanogaster030104 developmental biologymedicine.anatomical_structureNeurologyCerebral cortexDrosophilaDrosophila melanogasterNeuroscienceNeurobiology of Disease
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Dynamics of a Protein Interaction Network Associated to the Aggregation of polyQ-Expanded Ataxin-1

2020

Background: Several experimental models of polyglutamine (polyQ) diseases have been previously developed that are useful for studying disease progression in the primarily affected central nervous system. However, there is a missing link between cellular and animal models that would indicate the molecular defects occurring in neurons and are responsible for the disease phenotype in vivo. Methods: Here, we used a computational approach to identify dysregulated pathways shared by an in vitro and an in vivo model of ATXN1(Q82) protein aggregation, the mutant protein that causes the neurodegenerative polyQ disease spinocerebellar ataxia type-1 (SCA1). Results: A set of common dysregulated pathwa…

0301 basic medicinelcsh:QH426-470Ataxin 1Mice TransgenicNerve Tissue ProteinsProtein aggregationBlood–brain barrierblood-brain-barrierArticledrugspolyQ03 medical and health sciences0302 clinical medicineataxin-1Interaction networkIn vivoMutant proteinCerebellumGeneticsmedicineAnimalsGene Regulatory NetworksProtein Interaction MapsGenetics (clinical)NeuronsbiologypathwayGene Expression Profilingmedicine.diseaselcsh:Genetics030104 developmental biologymedicine.anatomical_structureGene Expression Regulationnetworkbiology.proteinSpinocerebellar ataxiaPeptidesNeuroscience030217 neurology & neurosurgeryFunction (biology)Genes
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