Featured Publications
Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice
Hsieh LS, Wen JH, Nguyen LH, Zhang L, Getz SA, Torres-Reveron J, Wang Y, Spencer DD, Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Science Translational Medicine 2020, 12 PMID: 33208499, PMCID: PMC9888000, DOI: 10.1126/scitranslmed.abc1492.Peer-Reviewed Original ResearchConceptsFocal cortical dysplasia type IITuberous sclerosis complexFocal cortical malformationsPyramidal neuronsMouse modelHCN4 expressionCortical pyramidal neuronsOnset of seizuresIntracellular cAMP concentrationSeizure activityCortical malformationsRepetitive firingDiseased neuronsSeizuresAbnormal expressionNeuronsEpilepsyCausative linkSeizure mechanismsCAMP concentrationMechanistic targetHCN4Channel activityPatientsGene therapy
2024
Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways
Binder M, Escobar I, Xu Y, Sokolov A, Zhang L, Bordey A. Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways. Journal Of Neuroscience 2024, 44: e1245232024. PMID: 39164108, PMCID: PMC11426378, DOI: 10.1523/jneurosci.1245-23.2024.Peer-Reviewed Original ResearchPup isolation callsFilamin AIsolation callsAutism spectrum disorderSigns of autism spectrum disorderPyramidal neuronsConstitutively active mutantCommunication deficitsDownstream of ERK1/2MTOR complex 1Actin crosslinkingSynaptic connectionsExpression of RhebSpine densityActive mutantActive RhebCore pathwaysRhebCortical synaptic connectivityCellular mosaicismConstitutively active RhebOne-month-old miceExcitatory synaptic activityNeocortex of miceSocial communication
2023
In Utero Electroporated Neurons for Medium-Throughput Screening of Compounds Regulating Neuron Morphology
Sokolov A, Aurich M, Bordey A. In Utero Electroporated Neurons for Medium-Throughput Screening of Compounds Regulating Neuron Morphology. ENeuro 2023, 10: eneuro.0160-23.2023. PMID: 37620147, PMCID: PMC10464655, DOI: 10.1523/eneuro.0160-23.2023.Peer-Reviewed Original ResearchConceptsSomatosensory cortexCortical pyramidal neuronsTreatment of epilepsyNeurite overgrowthNeurologic disabilityPyramidal neuronsSoma sizeNovel agentsCircuit alterationsSide effectsMorphologic assessmentMouse neuronsRelated disordersDiseased neuronsMTOR activatorDrug efficacyCandidate therapeuticsNeuronsNeuron morphologyMTOR activityMedium-throughput screeningNeurodevelopmental disordersNeurite lengthMorphologic measurementsDisorders4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice
Nguyen L, Sharma M, Bordey A. 4E-BP1 expression in embryonic postmitotic neurons mitigates mTORC1-induced cortical malformations and behavioral seizure severity but does not prevent epilepsy in mice. Frontiers In Neuroscience 2023, 17: 1257056. PMID: 37680968, PMCID: PMC10480503, DOI: 10.3389/fnins.2023.1257056.Peer-Reviewed Original ResearchBehavioral seizure severityCortical malformationsSeizure frequencySeizure severityRadial gliaLayer 2/3 pyramidal neuronsCortical layer 2/3 pyramidal neuronsFocal cortical malformationsBehavioral seizuresNeuronal hypertrophyIntractable seizuresPyramidal neuronsSeizure activityRapamycin complex 1 (mTORC1) pathwayEctopic neuronsSeizure preventionMigratory neuronsWhite matterSeizuresNeuronsMalformationsMechanistic targetRecent evidenceSeverityEpilepsyKIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility
Bordey A. KIF4 Gene Variant’s Disruption of PARP1 Signaling Increases Anxiety and Seizure Susceptibility. Epilepsy Currents 2023, 23: 257-258. PMID: 37662464, PMCID: PMC10470092, DOI: 10.1177/15357597231175007.Peer-Reviewed Original ResearchSeizure susceptibilityDevelopmental delayLower seizure thresholdHippocampal pyramidal neuronsSeizure susceptibility phenotypesCommon neurological diseasesPoly (ADP-ribose) polymeraseMild developmental delayKCC2 pathwaySeizure thresholdPyramidal neuronsEpilepsy treatmentMember of kinesinNeurological diseasesNeurological disordersBehavioral testsNeuronal morphologyMutant miceGenetic abnormalitiesIncreases anxietyPotential targetIntellectual disabilityEpilepsySignaling pathwaysSusceptibility phenotype
2021
Rab27a-Dependent Paracrine Communication Controls Dendritic Spine Formation and Sensory Responses in the Barrel Cortex
Zhang L, Zhang X, Hsieh LS, Lin TV, Bordey A. Rab27a-Dependent Paracrine Communication Controls Dendritic Spine Formation and Sensory Responses in the Barrel Cortex. Cells 2021, 10: 622. PMID: 33799820, PMCID: PMC8000154, DOI: 10.3390/cells10030622.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCells, CulturedDendritic SpinesExcitatory Postsynaptic PotentialsExtracellular VesiclesFemaleGene Expression Regulation, DevelopmentalGestational AgeMiceParacrine CommunicationPregnancyPyramidal CellsRab27 GTP-Binding ProteinsSensory Receptor CellsSomatosensory CortexSynaptic TransmissionVibrissaeConceptsSmall extracellular vesiclesL4 neuronsParacrine communicationExcitatory synaptic transmissionRelease of sEVsDendritic spine formationCell-autonomous effectsRisk of autismL2/3 neuronsPyramidal neuronsLayer 2/3Somatosensory cortexBarrel cortexCortical neuronsSynaptic transmissionWhisker stimulationSomatosensory informationJuvenile miceSynaptic connectivitySynaptic integrationSpine formationBrain developmentNeuronsSensory stimulationSpine development