2015
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice
Patriarchi T, Amabile S, Frullanti E, Landucci E, Lo Rizzo C, Ariani F, Costa M, Olimpico F, W Hell J, M Vaccarino F, Renieri A, Meloni I. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice. European Journal Of Human Genetics 2015, 24: 871-880. PMID: 26443267, PMCID: PMC4820038, DOI: 10.1038/ejhg.2015.216.Peer-Reviewed Original ResearchConceptsRett syndromeSynaptic markersInhibitory synapsesExcitatory/inhibitory balanceSynaptic protein expressionFetal mouse brainInhibitory synaptic markersPathogenesis of RTTExcitatory synaptic markersSevere neurodevelopmental disorderGlutamatergic markersInhibitory balanceAdult brainAdult micePrecise molecular mechanismsSynaptic differentiationPatientsMouse brainBrain synapsesPathological eventsNeuronsProtein expressionBrainGluD1Neurodevelopmental disorders
2008
Regulation of Cerebral Cortical Size and Neuron Number by Fibroblast Growth Factors: Implications for Autism
Vaccarino FM, Grigorenko EL, Smith KM, Stevens HE. Regulation of Cerebral Cortical Size and Neuron Number by Fibroblast Growth Factors: Implications for Autism. Journal Of Autism And Developmental Disorders 2008, 39: 511-520. PMID: 18850329, PMCID: PMC2847619, DOI: 10.1007/s10803-008-0653-8.Peer-Reviewed Original ResearchConceptsFibroblast growth factorCortical sizeNeuron numberExcitatory/inhibitory balanceGrowth factorCortical excitatory neuronsCortical neuron numberCerebral cortical sizeAutism spectrum disorderNetwork excitabilityInhibitory balanceRisk factorsCortical volumePathogenetic pathwaysExcitatory neuronsSpectrum disorderAnimal modelsBrain volumeDevelopmental alterationsPathologyDisordersSocial deficitsBrain sizeFGF genesSeizures