2019
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Iffland PH, Carson V, Bordey A, Crino PB. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia 2019, 60: 2163-2173. PMID: 31625153, PMCID: PMC7155771, DOI: 10.1111/epi.16370.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAnimalsEpilepsyGTPase-Activating ProteinsHumansMalformations of Cortical DevelopmentMutationTOR Serine-Threonine KinasesTumor Suppressor ProteinsConceptsCellular amino acid levelsRegulatory gene mutationsActivator RhebAmino acid levelsProtein complexesSingle geneRegulatory proteinsGene mutationsMechanistic targetNPRL3Rapamycin (mTOR) pathwayMTOR activationMTOR pathwayMutationsNPRL2MTOR inhibitionGenesFocal cortical dysplasia type IIaMTORDEPDC5ProteinPivotal rolePathwayRecent studiesNeuronal excitability
2016
Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A levels
Zhang L, Huang T, Bordey A. Tsc1 haploinsufficiency is sufficient to increase dendritic patterning and Filamin A levels. Neuroscience Letters 2016, 629: 15-18. PMID: 27345385, PMCID: PMC4983256, DOI: 10.1016/j.neulet.2016.06.037.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDendritesFilaminsHaploinsufficiencyMiceMice, TransgenicOlfactory BulbTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsTuberous sclerosis complexDendritic complexityDendritic patterningTotal dendritic lengthTsc1 haploinsufficiencyFLNA levelsNeonatal electroporationDendritic lengthNewborn neuronsDendritic abnormalitiesSholl analysisOlfactory bulbFilamin ATsc1 lossHeterozygote miceCognitive defectsDendritic morphologyMiceA levelsMost individualsHaploinsufficiencyHeterozygote conditionLevelsAbnormalitiesNeurons
2015
Hypoxia-inducible factor-1a contributes to dendritic overgrowth in tuberous sclerosis
Zhang L, Feliciano DM, Huang T, Zhang S, Bordey A. Hypoxia-inducible factor-1a contributes to dendritic overgrowth in tuberous sclerosis. Neuroscience Letters 2015, 612: 43-47. PMID: 26655465, PMCID: PMC4728030, DOI: 10.1016/j.neulet.2015.11.038.Peer-Reviewed Original ResearchConceptsHypoxia-inducible factor 1aTuberous sclerosis complexDendritic complexityOlfactory bulb neuronsNeonatal electroporationBulb neuronsTuberous sclerosisTransgenic miceTSC neuronsDendritic patterningNeurological disordersNeuronsCellular alterationsDendritic overgrowthPathological conditionsMRNA levelsRapamycin complex 1Mechanistic targetCognitive disabilitiesData highlightTranscriptional activityVivoFactor 1AOvergrowthLevel contributes
2014
Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model
Lozovaya N, Gataullina S, Tsintsadze T, Tsintsadze V, Pallesi-Pocachard E, Minlebaev M, Goriounova NA, Buhler E, Watrin F, Shityakov S, Becker AJ, Bordey A, Milh M, Scavarda D, Bulteau C, Dorfmuller G, Delalande O, Represa A, Cardoso C, Dulac O, Ben-Ari Y, Burnashev N. Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model. Nature Communications 2014, 5: 4563. PMID: 25081057, PMCID: PMC4143949, DOI: 10.1038/ncomms5563.Peer-Reviewed Original ResearchMeSH KeywordsAction PotentialsAnimalsAnticonvulsantsDisease Models, AnimalElectroencephalographyEpilepsyGene Expression RegulationHeterozygoteHumansMaleMiceMice, TransgenicMicrotomyNeocortexPatch-Clamp TechniquesPyrazolesQuinolonesReceptors, N-Methyl-D-AspartateSignal TransductionTissue Culture TechniquesTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsN-methyl-D-aspartate receptorsTuberous sclerosis complexGluN2C expressionSpiny stellate cellsEarly postnatal lifeGluN2C/DPromising molecular targetBlock seizuresMTOR-dependent mannerSurgical resectionCortical tubersEarly epilepsyUnprovoked seizuresPharmacoresistant epilepsyTSC patientsSeizure generationBrain malformationsFunctional upregulationMurine modelStellate cellsPostnatal lifeRecurrent excitationTumor suppressor geneEpilepsySeizures
2013
Hypoxia-inducible factor 1a is a Tsc1-regulated survival factor in newborn neurons in tuberous sclerosis complex
Feliciano DM, Zhang S, Quon JL, Bordey A. Hypoxia-inducible factor 1a is a Tsc1-regulated survival factor in newborn neurons in tuberous sclerosis complex. Human Molecular Genetics 2013, 22: 1725-1734. PMID: 23349360, PMCID: PMC3613161, DOI: 10.1093/hmg/ddt018.Peer-Reviewed Original ResearchConceptsHypoxia-inducible factor 1aTuberous sclerosis complexShort hairpin RNANewborn neuronsFactor 1ASubventricular zoneSVZ stem cellsNewborn neuron survivalNeurogenic subventricular zoneSingle-cell electroporationTranscriptional activityShRNA expressionHairpin RNAMammalian targetMolecular determinantsNovel microenvironmentNeuron deathNeuron survivalOlfactory lesionsNeonatal miceBrain lesionsStem cellsMouse modelNeuron productionSurvival advantage
2011
Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion
Feliciano DM, Quon JL, Su T, Taylor MM, Bordey A. Postnatal neurogenesis generates heterotopias, olfactory micronodules and cortical infiltration following single-cell Tsc1 deletion. Human Molecular Genetics 2011, 21: 799-810. PMID: 22068588, PMCID: PMC3263992, DOI: 10.1093/hmg/ddr511.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornCell MovementCerebral CortexDendritesElectroporationFemaleGene DeletionMaleMiceMice, TransgenicNeurogenesisNeurogliaNeuronsOlfactory BulbPeriventricular Nodular HeterotopiaSingle-Cell AnalysisTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsTuberous sclerosis complexSubventricular zoneBrain lesionsPostnatal subventricular zoneForebrain structuresTsc1 deletionHuman subventricular zoneCortical infiltrationNeurological symptomsNeuropsychiatric symptomsNon-invasive imagingOlfactory lesionsPostnatal neurogenesisTSC patientsPersistent infiltrationTransgenic miceAbnormal circuitsStructural abnormalitiesDendritic treeNeuronal precursorsLesionsEmbryonic neurogenesisNeurogenesisNeuronsMicronodulesUn modèle murin de sclérose tubéreuse de Bourneville pour comprendre le processus d’épilepsie associé aux tubers corticaux
Feliciano D, Bordey A. Un modèle murin de sclérose tubéreuse de Bourneville pour comprendre le processus d’épilepsie associé aux tubers corticaux. Médecine/sciences 2011, 27: 328-330. PMID: 21447310, DOI: 10.1051/medsci/2011273328.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsAnimalsDisease Models, AnimalMiceTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsSingle-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice
Feliciano DM, Su T, Lopez J, Platel JC, Bordey A. Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice. Journal Of Clinical Investigation 2011, 121: 1596-1607. PMID: 21403402, PMCID: PMC3069783, DOI: 10.1172/jci44909.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAstrocytesBase SequenceCell SizeCerebral CortexDisease Models, AnimalDNA PrimersFemaleGene Knockout TechniquesMiceMice, 129 StrainMice, Inbred BALB CMice, Inbred C57BLMice, KnockoutMice, Mutant StrainsMice, TransgenicPregnancySeizuresTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTumor Suppressor ProteinsConceptsTuberous sclerosis complexSeizure thresholdNeuronal populationsSigns of gliosisLower seizure thresholdContribution of astrocytesDiscrete neuronal populationsAutosomal dominant disorderHeterotopic nodulesCortical hyperexcitabilityCortical tubersCortical lesionsGlial reactivityIntractable seizuresCortical malformationsSoma sizeAnimal modelsTSC1 gene productAffected neuronsDendritic treeGiant cellsUtero electroporationMutant miceLesion formationMammalian target