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showing 10 items of 2226 documents

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities

2021

Intellectual disability (ID) is a pathological condition characterized by limited intellectual functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no pharmacological therapies are currently available. More than 1000 genes have been found mutated in ID patients pointing out that, despite the common phenotype, the genetic bases are highly heterogeneous and apparently unrelated. Bibliomic analysis reveals that ID genes converge onto a few biological modules, including cytoskeleton dynamics, whose regulation depends on Rho GTPases transduction. Genetic variants exert their effects at different levels in a hierarchical arrangement, starting from the molecular lev…

0301 basic medicineactin cytoskeletonReview0302 clinical medicineBorderline intellectual functioningIntellectual disabilityDisabilità Intellettiva GTPasi CitoscheletroBiology (General)CytoskeletonSpectroscopyNeuronseducation.field_of_studysystems biologyCognitionGeneral MedicinePhenotypeComputer Science ApplicationsChemistryPhenotypeintellectual disabilitySignal TransductionBoolean modelingQH301-705.5NeurogenesisIn silicoSystems biologyPopulationBiologyCatalysismicrotubulesInorganic Chemistry03 medical and health sciencesmedicineAnimalsHumansPhysical and Theoretical ChemistryeducationQD1-999Molecular BiologyGTPase signalingsmall Rho GTPasesOrganic Chemistrypharmacological modulationprotein:protein interaction networkActin cytoskeletonmedicine.disease030104 developmental biologySynapsesneuronal networksNeuroscience030217 neurology & neurosurgery
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Physiological Functions of the β-Site Amyloid Precursor Protein Cleaving Enzyme 1 and 2

2017

BACE1 was discovered as the β-secretase for initiating the cleavage of amyloid precursor protein (APP) at the β-secretase site, while its close homology BACE2 cleaves APP within the β-amyloid (Aβ) domain region and shows distinct cleavage preferences in vivo. Inhibition of BACE1 proteolytic activity has been confirmed to decrease Aβ generation and amyloid deposition, and thus specific inhibition of BACE1 by small molecules is a current focus for Alzheimer’s disease therapy. While BACE1 inhibitors are being tested in advanced clinical trials, knowledge regarding the properties and physiological functions of BACE is highly important and this review summarizes advancements in BACE1 research ov…

0301 basic medicineamyloid plaquessecretaseReviewamyloid precursor proteinBiology03 medical and health sciencesCellular and Molecular Neurosciencemental disordersAmyloid precursor proteinaspartic proteaseBACE substratesGlucose homeostasisMolecular Biologychemistry.chemical_classificationNeurogenesisBACE2P3 peptideBACE1Biochemistry of Alzheimer's disease030104 developmental biologyEnzymechemistryBiochemistrySynaptic plasticitybiology.proteinAmyloid precursor protein secretaseAlzheimer’s diseaseNeuroscienceFrontiers in Molecular Neuroscience
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Selective α-synuclein knockdown in monoamine neurons by intranasal oligonucleotide delivery: potential therapy for parkinson’s disease

2018

Progressive neuronal death in brainstem nuclei and widespread accumulation of α-synuclein are neuropathological hallmarks of Parkinson’s disease (PD). Reduction of α-synuclein levels is therefore a potential therapy for PD. However, because α-synuclein is essential for neuronal development and function, α-synuclein elimination would dramatically impact brain function. We previously developed conjugated small interfering RNA (siRNA) sequences that selectively target serotonin (5-HT) or norepinephrine (NE) neurons after intranasal administration. Here, we used this strategy to conjugate inhibitory oligonucleotides, siRNA and antisense oligonucleotide (ASO), with the triple monoamine reuptake …

0301 basic medicineanimal diseasesDopamineOligonucleotidesGene ExpressionPharmacologySynaptic TransmissionPrefrontal cortexMiceDA neurotransmission0302 clinical medicineDrug DiscoveryMonoaminergicNeural PathwaysRNA Small InterferingCells Cultured5-HT neurotransmissionChemistryGene Transfer TechniquesParkinson DiseaseVentral tegmental areaSubstantia Nigramedicine.anatomical_structureCaudate putamenGene Knockdown Techniquesalpha-SynucleinMolecular MedicineRNA InterferenceOriginal ArticleMonoamine reuptake inhibitormedicine.drugSignal TransductionSerotoninSubstantia nigraASO03 medical and health sciencesProsencephalonα-synucleinDopamineIntranasal administrationGeneticsmedicineAnimalsHumansMolecular BiologyAdministration IntranasalPharmacologyPars compactaDopaminergic NeuronsGenetic TherapyCorpus Striatumnervous system diseases030104 developmental biologyMonoamine neurotransmitterGene Expression Regulationnervous systemsiRNAParkinson’s diseaseLocus coeruleus030217 neurology & neurosurgery
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Sympatric Ixodes-tick species: pattern of distribution and pathogen transmission within wild rodent populations

2018

AbstractThe generalist tick Ixodes ricinus is the most important vector for tick-borne pathogens (TBP), including Borrelia burgdorferi sensu lato, in Europe. However, the involvement of other sympatric Ixodes ticks, such as the specialist vole tick I. trianguliceps, in the enzootic circulations of TBP remains unclear. We studied the distribution of I. ricinus and I. trianguliceps in Central Finland and estimated the TBP infection likelihood in the most common rodent host in relation with the abundance of the two tick species. Ixodes trianguliceps was encountered in all 16 study sites whereas I. ricinus was frequently observed only at a quarter of the study sites. The abundance of I. ricinus…

0301 basic medicineanimal diseaseslcsh:MedicineDisease VectorspuutiaisetBORRELIA-BURGDORFERI0302 clinical medicinepopulaatiotSCAPULARIS ACARIpathogen transmissionlcsh:ScienceFinlandMultidisciplinarybiologyArvicolinaeRicinuslevinneisyysBORNE ENCEPHALITIS-VIRUSSympatrytaudinaiheuttajatTick-Borne DiseasesANAPLASMA-PHAGOCYTOPHILUMEnzooticIxodes ricinusjyrsijät030231 tropical medicineZoologyLYME BORRELIOSISTickTRIANGULICEPSArticle03 medical and health sciencesIxodes triangulicepsparasitic diseasesAnimalsHumansBorrelia burgdorferiIxodesBABESIA-MICROTILAND-USELANDSCAPEfungilcsh:Rbiology.organism_classificationbacterial infections and mycosesBorrelia-bakteerit030104 developmental biologyRICINUS TICKSVoleIxodeslcsh:Q3111 BiomedicineScientific Reports
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Characterization and isolation of immature neurons of the adult mouse piriform cortex

2015

Physiological studies indicate that the piriform or primary olfactory cortex of adult mammals exhibits a high degree of synaptic plasticity. Interestingly, a subpopulation of cells in the layer II of the adult piriform cortex expresses neurodevelopmental markers, such as the polysialylated form of neural cell adhesion molecule (PSA-NCAM) or doublecortin (DCX). This study analyzes the nature, origin, and potential function of these poorly understood cells in mice. As previously described in rats, most of the PSA-NCAM expressing cells in layer II could be morphologically classified as tangled cells and only a small proportion of larger cells could be considered semilunar-pyramidal transitiona…

0301 basic medicinebiologyNeurogenesisDoublecortinCell biology03 medical and health sciencesCellular and Molecular NeurosciencePrimary olfactory cortex030104 developmental biology0302 clinical medicinenervous systemDevelopmental NeuroscienceAntigenNeuroblastPiriform cortexSynaptic plasticitybiology.proteinNeural cell adhesion moleculeNeuroscience030217 neurology & neurosurgeryDevelopmental Neurobiology
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Extrinsic and intrinsic mechanisms of axon regeneration: the need for spinal cord injury treatment strategies to address both

2016

Spinal cord injury (SCI) causes disturbances in motor and sensory functions leading to paralysis, the severity of which depends on the spinal level of the injury. Traumatic lesions of spinal cord axon projection tracts are untreatable in human patients, although numerous research groups worldwide are studying putative treatment strategies. Both extrinsic factors in the environment of the axons as well as intrinsic factors in the neurons themselves play important roles in the regeneration process (Chew et al., 2012). The peripheral nervous system (PNS) provides a good example where the extrinsic and intrinsic factors play optimally together to allow regeneration. Schwann cells dedifferentiat…

0301 basic medicinebusiness.industryRegeneration (biology)Central nervous systemInhibitory postsynaptic potentialmedicine.diseaseSpinal cordlcsh:RC346-42903 medical and health sciences030104 developmental biology0302 clinical medicinemedicine.anatomical_structurenervous systemDevelopmental NeurosciencePeripheral nervous systemPerspectivemedicineAxonbusinessGrowth coneSpinal cord injuryNeurosciencelcsh:Neurology. Diseases of the nervous system030217 neurology & neurosurgeryNeural Regeneration Research
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Disruption of otoferlin alters the mode of exocytosis at the mouse inner hair cell ribbon synapse

2019

Sound encoding relies on Ca2+-mediated exocytosis at the ribbon synapse between cochlear inner hair cells (IHCs) and type I spiral ganglion neurons (SGNs). Otoferlin, a multi-C-2 domain protein, is proposed to regulate Ca2+-triggered exocytosis at this synapse, but the precise mechanisms of otoferlin function remain to be elucidated. Here, performing whole-cell voltage-clamp recordings of excitatory postsynaptic currents (EPSCs) from SGNs in otoferlin mutant mice, we investigated the impact of Otof disruption at individual synapses with single release event resolution. Otof deletion decreased the spontaneous release rate and abolished the stimulus-secretion coupling. This was evident from f…

0301 basic medicinecochleaRibbon synapsehair cellExocytosislcsh:RC321-571Synapse03 medical and health sciencesCellular and Molecular Neuroscienceotoferlin0302 clinical medicinemedicineOTOFauditoryMolecular Biologylcsh:Neurosciences. Biological psychiatry. NeuropsychiatrySpiral ganglionOriginal Researchribbon synapsecalciumChemistryDepolarizationCell biology030104 developmental biologymedicine.anatomical_structureEPSCExcitatory postsynaptic potentialHair cellspiral ganglion neuron030217 neurology & neurosurgeryNeuroscience
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Dysregulated Prefrontal Cortex Inhibition in Prepubescent and Adolescent Fragile X Mouse Model

2020

Changes in excitation and inhibition are associated with the pathobiology of neurodevelopmental disorders of intellectual disability and autism and are widely described in Fragile X syndrome (FXS). In the prefrontal cortex (PFC), essential for cognitive processing, excitatory connectivity and plasticity are found altered in the FXS mouse model, however, little is known about the state of inhibition. To that end, we investigated GABAergic signaling in the Fragile X Mental Retardation 1 (FMR1) knock out (Fmr1-KO) mouse medial PFC (mPFC). We report changes at the molecular, and functional levels of inhibition at three (prepubescence) and six (adolescence) postnatal weeks. Functional changes we…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesGABAB receptorBiologyInhibitory postsynaptic potentiallcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceGABA0302 clinical medicineNeurodevelopmental disorderSDG 3 - Good Health and Well-beingmedicinePrefrontal cortexMolecular Biologylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal Researchprefrontal cortexGABAA receptormedicine.diseaseelectrophysiologyFMR1Fragile X syndrome030104 developmental biologyplasticityFragile XGABAergic/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Molecular Neuroscience
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Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model

2018

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability. A reduction in neuronal inhibition mediated by γ-aminobutyric acid type A receptors (GABAARs) has been implicated in the pathophysiology of FXS. Neuroactive steroids (NASs) are known allosteric modulators of GABAAR channel function, but recent studies from our laboratory have revealed that NASs also exert persistent metabotropic effects on the efficacy of tonic inhibition by increasing the protein kinase C (PKC)-mediated phosphorylation of the α4 and β3 subunits which increase the membrane expression and boosts tonic inhibition. We have assessed the GABAergic signaling in the hippocampus of fragile X ment…

0301 basic medicinecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyNeuroactive steroidGABAA receptor (GABAAR)fragile XInhibitory postsynaptic potentialTonic (physiology)lcsh:RC321-571tonic inhibition03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineInternal medicinemedicineMolecular Biologylcsh:Neurosciences. Biological psychiatry. NeuropsychiatryProtein kinase COriginal ResearchChemistryphosphorylationDentate gyrusFMR1030104 developmental biologyEndocrinologyMetabotropic receptorGABAergicneurosteroidbenzodiazepine030217 neurology & neurosurgeryNeuroscienceFrontiers in Molecular Neuroscience
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Astrocytic Ephrin-B1 Controls Synapse Formation in the Hippocampus During Learning and Memory

2020

Astrocytes play a fundamental role in synapse formation, pruning, and plasticity, which are associated with learning and memory. However, the role of astrocytes in learning and memory is still largely unknown. Our previous study showed that astrocyte-specific ephrin-B1 knock-out (KO) enhanced but ephrin-B1 overexpression (OE) in hippocampal astrocytes impaired contextual memory recall following fear conditioning. The goal of this study was to understand the mechanism by which astrocytic ephrin-B1 influences learning; specifically, learning-induced remodeling of synapses and dendritic spines in CA1 hippocampus using fear-conditioning paradigm. While we found a higher dendritic spine density …

0301 basic medicinecontextual memoryDendritic spinehippocampus1.1 Normal biological development and functioningeducationHippocampusBiologyHippocampal formationBasic Behavioral and Social Sciencelcsh:RC321-571Synapse03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineastrocyteUnderpinning researchsynapseBehavioral and Social Sciencemedicineephrin-B1Fear conditioninglcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal ResearchRecalldendritic spineNeurosciencesCell BiologySpine (zoology)030104 developmental biologymedicine.anatomical_structureMental Healthnervous systemNeurologicalBiochemistry and Cell BiologyNeuroscience030217 neurology & neurosurgeryAstrocyteNeuroscienceFrontiers in Synaptic Neuroscience
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