2025
Phenotypic complexities of rare heterozygous neurexin-1 deletions
Fernando M, Fan Y, Zhang Y, Tokolyi A, Murphy A, Kammourh S, Deans P, Ghorbani S, Onatzevitch R, Pero A, Padilla C, Williams S, Flaherty E, Prytkova I, Cao L, Knowles D, Fang G, Slesinger P, Brennand K. Phenotypic complexities of rare heterozygous neurexin-1 deletions. Nature 2025, 642: 710-720. PMID: 40205044, DOI: 10.1038/s41586-025-08864-9.Peer-Reviewed Original ResearchMeSH KeywordsAlternative SplicingAnimalsCalcium-Binding ProteinsCell Adhesion Molecules, NeuronalDNA Copy Number VariationsFemaleGABAergic NeuronsGene DeletionHeterozygoteHumansInduced Pluripotent Stem CellsLoss of Function MutationMaleMiceNeural Cell Adhesion MoleculesPhenotypeSequence DeletionSynapsesConceptsLoss-of-functionGain-of-functionGain-of-function mechanismCopy number variantsSynaptic activityCell type-specific effectsCell adhesion proteinsPrecision medicineIncreased wild-typeSplicing resultsAlternative splicingIsoform repertoireNRXN1 deletionsAberrant splicingHuman induced pluripotent stem cellsPatient-specific mutationsIncreased synaptic activityDecreased synaptic activityMutant isoformsNRXN1Associated with riskPluripotent stem cellsHeterozygous deletionWild-typeDeletion
2024
Dynamin-1 is a potential mediator in cancer-related cognitive impairment
Ng D, Hudson C, Nguyen T, Gupta S, Koh Y, Acharya M, Chan A. Dynamin-1 is a potential mediator in cancer-related cognitive impairment. Neurotherapeutics 2024, 22: e00480. PMID: 39516074, PMCID: PMC11742811, DOI: 10.1016/j.neurot.2024.e00480.Peer-Reviewed Original ResearchConceptsCancer-related cognitive impairmentFemale mouse modelNon-cancer controlsSpatial recognition memoryConsequences of cancer treatmentYoung adult cancerCytotoxic treatmentControl miceHippocampal CA1Cancer patientsMouse modelSynaptic activityAdult cancersCA3 subregionNeurological consequencesAnimal modelsCognitive impairmentAnimal studiesHuman studiesCancer treatmentNon-cancer participantsTherapeutic targetCancerExposure to cancerChemotherapyMonozygotic twins discordant for schizophrenia differ in maturation and synaptic transmission
Stern S, Zhang L, Wang M, Wright R, Rosh I, Hussein Y, Stern T, Choudhary A, Tripathi U, Reed P, Sadis H, Nayak R, Shemen A, Agarwal K, Cordeiro D, Peles D, Hang Y, Mendes A, Baul T, Roth J, Coorapati S, Boks M, McCombie W, Hulshoff Pol H, Brennand K, Réthelyi J, Kahn R, Marchetto M, Gage F. Monozygotic twins discordant for schizophrenia differ in maturation and synaptic transmission. Molecular Psychiatry 2024, 29: 3208-3222. PMID: 38704507, PMCID: PMC11449799, DOI: 10.1038/s41380-024-02561-1.Peer-Reviewed Original ResearchCo-TwinSchizophrenia patientsMonozygotic twinsHippocampal synaptic deficitsHealthy twinsSynapse-related genesDepressive disorderPsychiatric disordersSchizophreniaControl twinsTwin pairsSynaptic activitySynaptic deficitsTwin siblingsNeurophysiological abnormalitiesGroup of patientsSynaptic transmissionDiscordant twinsDisordersHippocampal neuronsNeuronsReprogrammed iPSCsIPSC modelsPatientsSiblingsIn vivo neuropil density from anatomical MRI and machine learning
Akif A, Staib L, Herman P, Rothman D, Yu Y, Hyder F. In vivo neuropil density from anatomical MRI and machine learning. Cerebral Cortex 2024, 34: bhae200. PMID: 38771239, PMCID: PMC11107380, DOI: 10.1093/cercor/bhae200.Peer-Reviewed Original ResearchConceptsMagnetic resonance imagingSynaptic densityNeuropil densityCellular densityArtificial neural networkNeural networkPositron emission tomographyAnatomical magnetic resonance imagingHealthy subjectsSynaptic activityMRI scansMachine learning algorithmsBrain's energy budgetEmission tomographyIn vivo MRI scansResonance imagingTissue cellularityLearning algorithmsDiffusion magnetic resonance imagingMachine learningMicroscopic interpretationInterpretation of functional neuroimaging dataIndividual predictionsSubjectsTumors Affect the Metabolic Connectivity of the Human Brain Measured by 18F-FDG PET
Pasquini L, Jenabi M, Graham M, Peck K, Schöder H, Holodny A, Krebs S. Tumors Affect the Metabolic Connectivity of the Human Brain Measured by 18F-FDG PET. Clinical Nuclear Medicine 2024, 49: 822-829. PMID: 38693648, PMCID: PMC11300165, DOI: 10.1097/rlu.0000000000005227.Peer-Reviewed Original ResearchConceptsHealthy controlsTemporal tumorF-FDGFrontal tumorF-FDG PET/MRIKarnofsky performance scoreF-FDG PETHigh-grade gliomasLow-grade gliomasLow KPSRadiation necrosisActive tumorMetabolic brain networkMetabolic connectivityHigher KPSBrain metabolic connectivityHemispheric tumorsLow-gradeSignificant hemispheric differencesSynaptic activityTumorPatientsBetweenness centralityLeft hemisphere tumorsGlucose metabolismThe mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function
Nguyen L, Xu Y, Nair M, Bordey A. The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function. ELife 2024, 12: rp91010. PMID: 38411613, PMCID: PMC10942629, DOI: 10.7554/elife.91010.Peer-Reviewed Original ResearchConceptsMouse medial prefrontal cortexMedial prefrontal cortexFocal malformations of cortical developmentMalformations of cortical developmentExcitatory synaptic activityExcitatory synaptic transmissionCortical neuron developmentPyramidal neuron morphologyMechanisms of hyperexcitabilityResponse to therapeutic interventionsMTORC1 signalingGene-specific mechanismsPrefrontal cortexFocal malformationsBrain somatic mutationsMTOR complex 1Membrane excitabilityBiallelic inactivationClinical manifestationsGene mutationsNetwork hyperexcitabilitySynaptic transmissionSynaptic activityIntractable epilepsyRepressor geneThe mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function
Nguyen L, Xu Y, Nair M, Bordey A. The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function. ELife 2024, 12 DOI: 10.7554/elife.91010.3.Peer-Reviewed Original ResearchMouse medial prefrontal cortexMedial prefrontal cortexFocal malformations of cortical developmentMalformations of cortical developmentExcitatory synaptic activityExcitatory synaptic transmissionCortical neuron developmentPyramidal neuron morphologyMechanisms of hyperexcitabilityResponse to therapeutic interventionsMTORC1 signalingGene-specific mechanismsPrefrontal cortexFocal malformationsBrain somatic mutationsMTOR complex 1Membrane excitabilityBiallelic inactivationClinical manifestationsGene mutationsNetwork hyperexcitabilitySynaptic transmissionSynaptic activityIntractable epilepsyRepressor gene
2022
The role of altered translation in intellectual disability and epilepsy
Malone TJ, Kaczmarek LK. The role of altered translation in intellectual disability and epilepsy. Progress In Neurobiology 2022, 213: 102267. PMID: 35364140, PMCID: PMC10583652, DOI: 10.1016/j.pneurobio.2022.102267.Peer-Reviewed Original ResearchConceptsIntellectual disabilityNeuronal stimulationLocal synaptic activityActivity-dependent changesActivity-dependent translationOverall excitabilitySynaptic activityEpileptic seizuresSynaptic componentsCellular compositionEpilepsyDisabilityIon channelsCell typesDisordersHigher proportionStimulationSeizuresStimuliWorld populationPopulationExcitabilityOriginal stimulusDiseaseMutationsPresynaptic autophagy is coupled to the synaptic vesicle cycle via ATG-9
Yang S, Park D, Manning L, Hill SE, Cao M, Xuan Z, Gonzalez I, Dong Y, Clark B, Shao L, Okeke I, Almoril-Porras A, Bai J, De Camilli P, Colón-Ramos DA. Presynaptic autophagy is coupled to the synaptic vesicle cycle via ATG-9. Neuron 2022, 110: 824-840.e10. PMID: 35065714, PMCID: PMC9017068, DOI: 10.1016/j.neuron.2021.12.031.Peer-Reviewed Original ResearchConceptsSynaptic vesicle cycleVesicle cyclePresynaptic autophagyAutophagosome biogenesisATG-9Only transmembrane proteinTrans-Golgi networkCellular degradation pathwayPresynaptic sitesActivity-dependent mannerTransmembrane proteinSynaptojanin 1Synaptic fociBiogenesisAutophagyNeuronal healthDegradation pathwayTraffickingPathwayParkinson's diseaseSynaptic activityNeuronal activityElegansSitesEndocytosis
2021
Personalised, image-guided, noninvasive brain stimulation in gliomas: Rationale, challenges and opportunities
Sprugnoli G, Rossi S, Rotenberg A, Pascual-Leone A, El-Fakhri G, Golby A, Santarnecchi E. Personalised, image-guided, noninvasive brain stimulation in gliomas: Rationale, challenges and opportunities. EBioMedicine 2021, 70: 103514. PMID: 34391090, PMCID: PMC8365310, DOI: 10.1016/j.ebiom.2021.103514.Peer-Reviewed Original ResearchConceptsHigh-grade gliomasNeuronal activityBrain tumorsProximity of tumor cellsSlow tumor growthAggressive human cancersMalignant brain tumorsBrain stimulationTumor mitosisHealthy brain tissuePatient survivalMechanism of actionImage-guidedTumor cellsTumor growthSynaptic activityHuman cancersTumorTherapeutic interventionsClinical settingNoninvasive brain stimulationElectrical stimulationWhole-brain levelPatientsBrain tissueAbl2:Cortactin Interactions Regulate Dendritic Spine Stability via Control of a Stable Filamentous Actin Pool
Shaw JE, Kilander MBC, Lin YC, Koleske AJ. Abl2:Cortactin Interactions Regulate Dendritic Spine Stability via Control of a Stable Filamentous Actin Pool. Journal Of Neuroscience 2021, 41: 3068-3081. PMID: 33622779, PMCID: PMC8026353, DOI: 10.1523/jneurosci.2472-20.2021.Peer-Reviewed Original ResearchConceptsDendritic spine stabilityDendritic spinesSpine stabilityTonic increaseSubset of spinesSexes of miceMost excitatory synapsesCortactin interactionsGluN2B levelsSpine densitySpine lossArg nonreceptor tyrosine kinaseKinetically distinct poolsExcitatory synapsesHippocampal neuronsSynaptic activitySpine enlargementSpineSpine sizeSpine actinActivity-dependent spine enlargementSpine shapeStructural plasticityDistinct poolsTyrosine kinase
2019
Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls
Ghatak S, Dolatabadi N, Trudler D, Zhang X, Wu Y, Mohata M, Ambasudhan R, Talantova M, Lipton S. Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls. ELife 2019, 8: e50333. PMID: 31782729, PMCID: PMC6905854, DOI: 10.7554/elife.50333.Peer-Reviewed Original ResearchConceptsDisease brainNeuronal culturesHuman Alzheimer's disease brainCerebral organoidsAD-related mutationsHiPSC-derived neuronsTransgenic AD miceInhibitory synaptic activityMechanisms of hyperexcitabilityAlzheimer's disease brainAberrant electrical activitySodium current densityAD micePathophysiological correlatesSynaptic dysfunctionAD pathophysiologyExcessive excitabilitySynaptic activityObserved hyperexcitabilityCognitive declineBursting activityHyperexcitabilityPresenilin 1Electrical activityNeurite length
2018
Ratiometric Calcium Imaging of Individual Neurons in Behaving Caenorhabditis Elegans
Ravi B, Nassar LM, Kopchock RJ, Dhakal P, Scheetz M, Collins KM. Ratiometric Calcium Imaging of Individual Neurons in Behaving Caenorhabditis Elegans. Journal Of Visualized Experiments 2018, 56911. PMID: 29443112, PMCID: PMC5912386, DOI: 10.3791/56911.Peer-Reviewed Original ResearchConceptsHermaphrodite-specific neuronsEgg-laying circuitCaenorhabditis elegans wormsEgg-laying behaviorNon-invasive optical approachSerotonergic Hermaphrodite Specific NeuronsCaenorhabditis elegansMolecular mechanismsFluorescent reportersFluorescent proteinSensitive CaIntracellular CaNeural circuit activityRatiometric CaSpecific neuronsDifferent behavior statesRatiometric calcium imagingAnimal trackingBrightfield imagingCircuit activitySynaptic activityElegansGlass coverslipsWormsCells
2017
βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons
Efimova N, Korobova F, Stankewich MC, Moberly AH, Stolz DB, Wang J, Kashina A, Ma M, Svitkina T. βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons. Journal Of Neuroscience 2017, 37: 6442-6459. PMID: 28576936, PMCID: PMC5511878, DOI: 10.1523/jneurosci.3520-16.2017.Peer-Reviewed Original ResearchConceptsDendritic spinesSynaptic activitySpinocerebellar ataxia type 5Spine neckAberrant spine morphologyMushroom-shaped spinesType 5Autosomal recessive cerebellar ataxia type 1Spiny synapsesPostsynaptic excitationMiniature EPSCsShaft synapsesDamage neuronsNeuronal pathologyCortical neuronsSomatodendritic compartmentPresynaptic terminalsNeurodegenerative syndromePostsynaptic structuresSpine headsNeuropsychiatric disordersSynaptic strengthType 1Spine morphologyBrain function
2015
Cortical Membrane Potential Signature of Optimal States for Sensory Signal Detection
McGinley MJ, David SV, McCormick DA. Cortical Membrane Potential Signature of Optimal States for Sensory Signal Detection. Neuron 2015, 87: 179-192. PMID: 26074005, PMCID: PMC4631312, DOI: 10.1016/j.neuron.2015.05.038.Peer-Reviewed Original ResearchConceptsCortical neuronsAuditory cortical neuronsSound-evoked responsesSensory-evoked responsesBackground synaptic activityMembrane potentialTonic periodsSignal detection behaviorSynaptic activityStable hyperpolarizationMembrane potential activitySlow oscillationsHippocampal recordingsNeural correlatesNeuronsTask performanceArousalPotential activityDetection behaviorPhysiological signaturesNoise detection taskArousal measuresMiceActivityDopamine-dependent corticostriatal synaptic filtering regulates sensorimotor behavior
Wong MY, Borgkvist A, Choi SJ, Mosharov EV, Bamford NS, Sulzer D. Dopamine-dependent corticostriatal synaptic filtering regulates sensorimotor behavior. Neuroscience 2015, 290: 594-607. PMID: 25637802, PMCID: PMC4494866, DOI: 10.1016/j.neuroscience.2015.01.022.Peer-Reviewed Original ResearchConceptsReceptor agonistD2-like receptor agonistDopamine D2-like receptor agonistsSensorimotor responsesNigrostriatal dopamine axonsD2 receptor activationD2 receptor agonistCB1 receptor antagonistLeft dorsal striatumSensorimotor behaviorSynaptic filteringCB1 endocannabinoid receptorLesioned miceCorticostriatal terminalsCorticostriatal synapsesSensorimotor deficitsReplacement therapyD2 agonistMetabotropic glutamateReceptor antagonistCB1 receptorsEndocannabinoid receptorsSynaptic activityControl disordersCorticostriatal activity
2014
A dynamin 1-, dynamin 3- and clathrin-independent pathway of synaptic vesicle recycling mediated by bulk endocytosis
Wu Y, O'Toole ET, Girard M, Ritter B, Messa M, Liu X, McPherson PS, Ferguson SM, De Camilli P. A dynamin 1-, dynamin 3- and clathrin-independent pathway of synaptic vesicle recycling mediated by bulk endocytosis. ELife 2014, 3: e01621. PMID: 24963135, PMCID: PMC4107917, DOI: 10.7554/elife.01621.Peer-Reviewed Original ResearchConceptsClathrin-mediated endocytosisDynamin 1Bulk endosomesBulk endocytosisSynaptic vesiclesNew synaptic vesiclesClathrin-independent pathwaySynaptic vesicle recyclingSV membranesSV reformationDynamin 3Vesicle recyclingClathrinEndocytosisLarge endocytic vacuolesEndocytic vacuolesEndosomesPotent stimulationIntense synaptic activityVacuolesPathwaySynaptic activityMassive formationExocytosisBudsChapter 5 ECM receptors in neuronal structure, synaptic plasticity, and behavior
Kerrisk ME, Cingolani LA, Koleske AJ. Chapter 5 ECM receptors in neuronal structure, synaptic plasticity, and behavior. Progress In Brain Research 2014, 214: 101-131. PMID: 25410355, PMCID: PMC4640673, DOI: 10.1016/b978-0-444-63486-3.00005-0.Peer-Reviewed Original ResearchConceptsSynaptic plasticityNeuronal structuresCentral nervous system developmentForm synapsesNervous system developmentDendritic projectionsSynaptic activityPostsynaptic partnersPostsynaptic cellECM receptorsReceptor activationGuidance moleculesSynapse structureReceptorsStable synapsesExtracellular matrix receptorsNeuronsSynapsesCell adhesion receptorsMatrix receptorsAdhesion receptorsReceptor transitionPreECM compositionECM ligands
2012
Quantitative fMRI and oxidative neuroenergetics
Hyder F, Rothman DL. Quantitative fMRI and oxidative neuroenergetics. NeuroImage 2012, 62: 985-994. PMID: 22542993, PMCID: PMC3389300, DOI: 10.1016/j.neuroimage.2012.04.027.Peer-Reviewed Original ResearchConceptsFunctional magnetic resonance imagingNeuronal activityQuantitative functional magnetic resonance imagingTotal neuronal activityBlood oxygenation level-dependent (BOLD) signalBrain energy metabolismResting-state paradigmLevel-dependent signalMagnetic resonance imagingSynaptic activityResonance imagingParamagnetic contrast agentFunctional brainBOLD contrastBaseline stateEnergy metabolismFunctional mapsContrast agentsMagnetic resonance spectroscopyFMRI dataRegion of interestActivityNeuroenergeticsBrainHigh temperatures alter physiological properties of pyramidal cells and inhibitory interneurons in hippocampus
Kim JA, Connors BW. High temperatures alter physiological properties of pyramidal cells and inhibitory interneurons in hippocampus. Frontiers In Cellular Neuroscience 2012, 6: 27. PMID: 22783167, PMCID: PMC3390787, DOI: 10.3389/fncel.2012.00027.Peer-Reviewed Original ResearchO-LM interneuronsPyramidal cellsPyramidal neuronsArea CA3Oriens-lacunosum moleculare (O-LM) interneuronsSpontaneous synaptic activityMost pyramidal cellsMammalian central neuronsSpontaneous action potentialsFast synaptic transmissionIntrinsic membrane propertiesEffect of hyperthermiaHippocampal excitabilityImmature hippocampusFebrile seizuresCentral neuronsMoleculare interneuronsInhibitory interneuronsNeuronal excitabilitySynaptic transmissionAcute hyperthermiaArea CA1Synaptic activityInterneuronsAction potentials
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