Search results for "NEUROSCIENCE"

showing 10 items of 8040 documents

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.

2020

Summary De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of unexplained intellectual disability (ID) cases in females and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here, we use human and mouse genetics and cell biological and biochemical approaches to elucidate mechanisms by which pathogenic DDX3X variants disrupt brain development. We report the largest clinical cohort to date with DDX3X mutations (n = 107), demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcom…

0301 basic medicineMaleNeurogenesisMutation MissenseBiologyPathogenesisDEAD-box RNA Helicases03 medical and health sciencesMice0302 clinical medicineGermline mutationStress granuleCell Line TumorPolymicrogyriamedicineMissense mutationAnimalsHumansCells CulturedGeneticsCerebral CortexGeneral NeuroscienceNeurogenesismedicine.diseaseRNA Helicase AMice Inbred C57BL030104 developmental biologyNeurodevelopmental DisordersRNAFemaleDDX3X030217 neurology & neurosurgeryNeuron
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Physical activity and environmental enrichment: Behavioural effects of exposure to different housing conditions in mice.

2020

Enriched environments and exercise provide complex environmental stimulation that can induce emotional and cognitive changes; however, few studies have evaluated the effects of these two components on other behaviours, such as novelty seeking or pain sensitivity. The aim of the present study was to investigate the influence of voluntary physical activity provided through different housing conditions on anxiety, locomotor activity, pain sensitivity, and exploration. Male mice at postnatal day (PND) 21 and were randomly assigned to one of four different conditions on PND 28: Marlau cages (MC), a standardized cage designed to provide a complex environment; physical exercise in large groups (PE…

0301 basic medicineMalePain Thresholdmedicine.medical_specialtyHot TemperatureEmotionsPsychological interventionPhysical activityPhysical exerciseStimulationAudiologyAnxiety03 medical and health sciencesMiceRandom Allocation0302 clinical medicinePhysical Conditioning AnimalAnimals Outbred StrainsMedicineAnimalsHot plate testEnvironmental enrichmentbusiness.industryGeneral NeuroscienceNovelty seekingGeneral MedicineEquipment DesignHousing Animal030104 developmental biologyExploratory BehaviorAnxietymedicine.symptombusinessBehavioral Sciences030217 neurology & neurosurgeryLocomotionActa neurobiologiae experimentalis
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The Cumulative Effect of Transient Synchrony States on Motor Performance in Parkinson's Disease.

2020

Bursts of beta frequency band activity in the basal ganglia of patients with Parkinson's disease (PD) are associated with impaired motor performance. Here we test in human adults whether small variations in the timing of movement relative to beta bursts have a critical effect on movement velocity and whether the cumulative effects of multiple beta bursts, both locally and across networks, matter.

0301 basic medicineMaleParkinson's diseaseBehavioral/CognitiveParkinson's diseaseDeep Brain StimulationElectroencephalography Phase Synchronization610 Medicine & healthLocal field potentialHypokinesialocal field potentialsBasal Ganglia03 medical and health sciencesBursting0302 clinical medicineSubthalamic NucleusBasal gangliaMedicineHumansBeta (finance)610 Medicine & healthCumulative effectResearch ArticlesAgedCued speechbeta oscillationsbusiness.industryGeneral NeuroscienceParkinson DiseaseMiddle Agedmedicine.diseaseSubthalamic nucleus030104 developmental biologyFemaleCuesbusinessBeta RhythmNeuroscience030217 neurology & neurosurgeryPhotic StimulationPsychomotor Performance
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Melatonin enhances neural stem cell differentiation and engraftment by increasing mitochondrial function

2017

Mendivil-Perez, Miguel et al.

0301 basic medicineMaleParkinson's diseaseCellMice TransgenicBiologyMitochondrionTransplantmedicine.disease_causeMelatonin03 medical and health sciencesMice0302 clinical medicineEndocrinologyAlzheimer DiseasemedicineAnimalsreproductive and urinary physiologyMelatoninNeuronsNeural stem cellsATP synthaseGraft SurvivalCell Differentiationmedicine.diseaseAntigens DifferentiationNeural stem cellnervous system diseasesCell biologyMitochondriaTransplantation030104 developmental biologymedicine.anatomical_structurenervous systemOxidative stressbiology.proteinParkinson’s diseaseNeuroscienceAlzheimer’s disease030217 neurology & neurosurgeryOxidative stressmedicine.drug
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Selection of the Optimal Algorithm for Real-Time Estimation of Beta Band Power during DBS Surgeries in Patients with Parkinson's Disease

2017

Deep Brain Stimulation (DBS) is a surgical procedure for the treatment of motor disorders in patients with Parkinson’s Disease (PD). DBS involves the application of controlled electrical stimuli to a given brain structure. The implantation of the electrodes for DBS is performed by a minimally invasive stereotactic surgery where neuroimaging and microelectrode recordings (MER) are used to locate the target brain structure. The Subthalamic Nucleus (STN) is often chosen for the implantation of stimulation electrodes in DBS therapy. During the surgery, an intraoperative validation is performed to locate the dorsolateral region of STN. Patients with PD reveal a high power in the β band (frequenc…

0301 basic medicineMaleParkinson's diseaseDeep brain stimulationStereotactic surgeryTime FactorsGeneral Computer ScienceArticle SubjectGeneral Mathematicsmedicine.medical_treatmentDeep Brain StimulationElectroencephalographylcsh:Computer applications to medicine. Medical informaticsSignalNeurosurgical ProceduresStatistics Nonparametriclcsh:RC321-57103 medical and health sciences0302 clinical medicineNeuroimagingSubthalamic NucleusmedicineHumansPerioperative Periodlcsh:Neurosciences. Biological psychiatry. Neuropsychiatrymedicine.diagnostic_testFourier Analysisbusiness.industryGeneral NeuroscienceSpectral density estimationElectroencephalographyParkinson DiseaseGeneral Medicinemedicine.diseasenervous system diseasesSubthalamic nucleus030104 developmental biologysurgical procedures operativenervous systemlcsh:R858-859.7FemalebusinessBeta RhythmMicroelectrodes030217 neurology & neurosurgeryAlgorithmsBiomedical engineeringResearch ArticleComputational Intelligence and Neuroscience
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Attenuated beta rebound to proprioceptive afferent feedback in Parkinson's disease.

2018

AbstractMotor symptoms are defining traits in the diagnosis of Parkinson’s disease (PD). A crucial component in motor function and control of movements is the integration of efferent signals from the motor network to the peripheral motor system, and afferent proprioceptive sensory feedback. Previous studies have indicated abnormal movement-related cortical oscillatory activity in PD, but the role of the proprioceptive afference on abnormal oscillatory activity in PD has not been elucidated. In the present study, we examine the role of proprioception by studying the cortical processing of proprioceptive stimulation in PD patients, ON/OFF levodopa medication, as compared to that of healthy co…

0301 basic medicineMaleParkinson's diseaselcsh:MedicineStimulationAntiparkinson AgentsLevodopa0302 clinical medicineFeedback SensoryMedicine:Science::Medicine [DRNTU]lcsh:Science0303 health sciencesMultidisciplinarymedicine.diagnostic_testMotor CortexMagnetoencephalographyParkinson DiseaseMiddle Aged3. Good healthProprioceptive functioncortexmedicine.anatomical_structureFemaleMotor cortexmedicine.drugAdultLevodopaParkinsonin tautiSensory systemArticle03 medical and health sciencesmotor cortexMotor systemHumans030304 developmental biologyAgedProprioceptionbusiness.industrylcsh:RMagnetoencephalographyIndex fingermedicine.diseaseProprioceptionaivokuori030104 developmental biologylcsh:QbusinessBeta RhythmNeuroscience030217 neurology & neurosurgeryScientific reports
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Dietary salt promotes ischemic brain injury and is associated with parenchymal migrasome formation

2018

Sodium chloride promotes vascular fibrosis, arterial hypertension, pro-inflammatory immune cell polarization and endothelial dysfunction, all of which might influence outcomes following stroke. But despite enormous translational relevance, the functional importance of sodium chloride in the pathophysiology of acute ischemic stroke is still unclear. In the current study, we show that high-salt diet leads to significantly worse functional outcomes, increased infarct volumes, and a loss of astrocytes and cortical neurons in acute ischemic stroke. While analyzing the underlying pathologic processes, we identified the migrasome as a novel, sodium chloride-driven pathomechanism in acute ischemic …

0301 basic medicineMalePathologyMacroglial CellsSodium ChlorideVascular MedicineBrain IschemiaMice0302 clinical medicineCytosolAnimal CellsMedicine and Health SciencesMedicineEndothelial dysfunctionStrokeNeuronsCerebral CortexCerebral IschemiaMultidisciplinaryQRPathophysiologyStrokeChemistryNeurologyPhysical SciencesImmunohistochemistryMedicineCellular Structures and OrganellesCellular TypesIntracellularResearch Articlemedicine.medical_specialtyScienceCerebrovascular DiseasesGlial Cells03 medical and health sciencesImmune systemIn vivoParenchymaAnimalscardiovascular diseasesVesiclesSodium Chloride DietaryMicroglial CellsNutritionIschemic StrokeOrganellesbusiness.industryChemical CompoundsBiology and Life SciencesCell Biologymedicine.diseaseDiet030104 developmental biologyCellular NeuroscienceAstrocytesBrain InjuriesSaltsbusiness030217 neurology & neurosurgeryNeurosciencePLoS ONE
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Short-Term Effects of Microglia-Specific Mitochondrial Dysfunction on Amyloidosis in Transgenic Models of Alzheimer's Disease.

2018

Reduction of mitochondrial activity is a subtle and early event in the pathogenesis of Alzheimer’s disease. Mitochondrial damage and consequentially enhanced production of reactive oxygen species is particularly occurring in the vicinity of amyloid plaques. Since all cells are affected by mitochondrial damage, analyses of cell type-specific effects are challenging. To study the impact of mitochondrial alterations on microglial activity in a homogeneous genetic background, we generated bone marrow chimeras of irradiated 46-days-old APP-transgenic mice. For reconstitution, bone marrow from CX3CR1-eGFP mice with mitochondria of either non-obese diabetic or C57BL/6J animals was utilized. Succes…

0301 basic medicineMalePathologymedicine.medical_specialtyMitochondrial DiseasesAmyloidCellGreen Fluorescent ProteinsCX3C Chemokine Receptor 1Mice TransgenicPlaque AmyloidBiologyMitochondrionPathogenesis03 medical and health sciencesAmyloid beta-Protein Precursor0302 clinical medicineAlzheimer DiseaseMice Inbred NODCX3CR1medicinePresenilin-1AnimalsHumansMicrogliaGeneral NeuroscienceAmyloidosisCalcium-Binding ProteinsMicrofilament ProteinsGeneral MedicineAmyloidosismedicine.diseaseMitochondriaMice Inbred C57BLPsychiatry and Mental healthClinical PsychologyDisease Models Animal030104 developmental biologymedicine.anatomical_structureFemaleBone marrowMicrogliaGeriatrics and Gerontology030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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Elevated Regulatory T Cell Levels in Glaucoma Patients in Comparison to Healthy Controls.

2016

Many studies analyzing neurodegenerative diseases demonstrate altered frequencies of regulatory T cells (Tregs). Till date, there is hardly any information concerning Tregs in glaucoma. To gather first results concerning Treg levels in glaucoma patients, we aimed to investigate whether the number of CD4(+)CD25(+)T cells vary in the patients suffering from primary open-angle glaucoma (POAG) and healthy controls.Heparinized blood samples were collected from 16 healthy individuals and 16 POAG patients. The groups were age and gender matched. A density gradient centrifugation over Ficoll-Paque was performed to isolate the peripheral blood mononuclear cells. The resulting cells were stained with…

0301 basic medicineMalePathologymedicine.medical_specialtyRegulatory T cellGlaucomaCell SeparationPeripheral blood mononuclear cellT-Lymphocytes RegulatoryFlow cytometry03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compoundmedicineCentrifugation Density GradientHumansIL-2 receptorLymphocyte CountFluoresceinmedicine.diagnostic_testbiologybusiness.industryInterleukin-2 Receptor alpha SubunitCell sortingMiddle Agedmedicine.diseaseFlow Cytometryeye diseasesSensory SystemsHealthy VolunteersOphthalmology030104 developmental biologymedicine.anatomical_structurechemistryImmunologyCD4 Antigensbiology.proteinFemalebusinessPhycoerythrinGlaucoma Open-AngleCurrent eye research
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Characterization of the canine rostral ventricular-subventricular zone: Morphological, immunohistochemical, ultrastructural, and neurosphere assay st…

2017

The mammalian ventricular-subventricular zone (V-SVZ) presents the highest neurogenic potential in the brain of the adult individual. In rodents, it is mainly composed of chains of neuroblasts. In humans, it is organized in layers where neuroblasts do not form chains. The aim of this study is to describe the cytoarchitecture of canine V-SVZ (cV-SVZ), to assess its neurogenic potential, and to compare our results with those previously described in other species. We have studied by histology, immunohistochemistry (IHC), electron microscopy and neurosphere assay the morphology, cytoarchitecture and neurogenic potential of cV-SVZ. Age groups of animals were performed. Histological and ultrastru…

0301 basic medicineMalePathologymedicine.medical_specialtyanimal diseasesSubventricular zoneBiology03 medical and health sciences0302 clinical medicineDogsNeuroblastNeural Stem CellsSpecies SpecificityNeurospheremedicineSubependymal zoneAnimalsStem Cell NicheCells CulturedGeneral NeuroscienceNeurogenesisBrainHistologyImmunohistochemistryMicroscopy Electron030104 developmental biologymedicine.anatomical_structurenervous systemCytoarchitectureImmunohistochemistryFemale030217 neurology & neurosurgeryThe Journal of comparative neurology
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