2023
Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis
Jourdon A, Wu F, Mariani J, Capauto D, Norton S, Tomasini L, Amiri A, Suvakov M, Schreiner J, Jang Y, Panda A, Nguyen C, Cummings E, Han G, Powell K, Szekely A, McPartland J, Pelphrey K, Chawarska K, Ventola P, Abyzov A, Vaccarino F. Modeling idiopathic autism in forebrain organoids reveals an imbalance of excitatory cortical neuron subtypes during early neurogenesis. Nature Neuroscience 2023, 26: 1505-1515. PMID: 37563294, PMCID: PMC10573709, DOI: 10.1038/s41593-023-01399-0.Peer-Reviewed Original ResearchConceptsIdiopathic autism spectrum disorderCortical neuron subtypesAutism spectrum disorderEarly cortical developmentCortical organoidsCortical plateExcitatory neuronsCortical developmentRare formNeuron subtypesUnaffected fatherASD pathogenesisForebrain organoidsEarly neurogenesisRare variantsIdiopathic autismRisk genesTranscriptomic alterationsNeuronsProbandsSingle-cell transcriptomicsForebrain developmentSpectrum disorderTranscriptomic changesAlterations
2015
The use of stem cells to study autism spectrum disorder.
Ardhanareeswaran K, Coppola G, Vaccarino F. The use of stem cells to study autism spectrum disorder. The Yale Journal Of Biology And Medicine 2015, 88: 5-16. PMID: 25745370, PMCID: PMC4345539.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHuman-induced pluripotent stem cellsStem cellsNeuronal developmentIdentification of hundredsEmbryonic stem cellsUnique genetic signaturePluripotent stem cellsCore symptomsASD patientsAutism spectrum disorderPost-mortem brain samplesGenome studiesGenetic signaturesAutism core symptomsNew therapeutic avenuesSerious developmental disabilitiesIdiopathic autism spectrum disorderSkin biopsiesHuman-specific behaviorsSpectrum disorderSingle drugDrug AdministrationTherapeutic avenuesBrain samplesDiagnostic tests
2013
Neurogenesis and Maturation in Neonatal Brain Injury
Salmaso N, Tomasi S, Vaccarino FM. Neurogenesis and Maturation in Neonatal Brain Injury. Clinics In Perinatology 2013, 41: 229-239. PMID: 24524457, PMCID: PMC3925307, DOI: 10.1016/j.clp.2013.10.007.ChaptersConceptsChronic perinatal hypoxiaConsequences of prematurityNeonatal brain injurySevere neurologic deficitsAttention deficit hyperactivityPerinatal hypoxiaNeurologic deficitsPreterm birthPremature birthBrain injuryAnimal modelsCognitive impairmentNeuropsychiatric conditionsMost childrenCognitive delayPartial recoveryIncidenceEnvironmental enrichmentAutism spectrum disorderBirthSpectrum disorderNormal developmentPrematurity
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