2025
Chapter 53 Tourette syndrome
Abdallah S, Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F, Fernandez T. Chapter 53 Tourette syndrome. 2025, 951-962. DOI: 10.1016/b978-0-443-19176-3.00044-3.Peer-Reviewed Original ResearchTourette syndromeCortico-striatal-thalamo-cortical circuitryStriatal volume lossAdult TS patientsNeuroimaging studiesNeuropsychiatric disordersDopaminergic receptorsVocal ticsStriatal interneuronsClasses of striatal interneuronsBasal gangliaMetabolic hypofunctionEnvironmental risk factorsTS patientsAmeliorate symptomsGenetic contributionMolecular abnormalitiesPharmacological strategiesCircuitryAffecting 1Animal modelsRisk factorsInterneuronal circuitryVolume lossAbnormalities
2022
Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids
Brady M, Mariani J, Koca Y, Szekely A, King R, Bloch M, Landeros-Weisenberger A, Leckman J, Vaccarino F. Mispatterning and interneuron deficit in Tourette Syndrome basal ganglia organoids. Molecular Psychiatry 2022, 27: 5007-5019. PMID: 36447010, PMCID: PMC9949887, DOI: 10.1038/s41380-022-01880-5.Peer-Reviewed Original ResearchConceptsTourette syndromeInterneuron deficitsGABAergic interneuronsHealthy controlsNeurodevelopmental underpinningsNeuropathological deficitsBG circuitryNeuropsychiatric disordersDecreased differentiationT patientsInterneuronsAltered expressionPotential mechanismsCilia disruptionSonic hedgehogOrganoidsStem cellsTS individualsPluripotent stem cellsGli transcription factorsDeficitsOrganoid differentiationEarly stagesCholinergicPatients
2021
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier AS, Mariani J, Petrov D, Barres BA, Duncan L, Abyzov A, Vogel H, Moran J, Vaccarino F, Tamminga C, Levinson D, Urban A. Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. Nature Neuroscience 2021, 24: 186-196. PMID: 33432196, PMCID: PMC8806165, DOI: 10.1038/s41593-020-00767-4.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultCation Transport ProteinsEmbryonic DevelopmentFemaleGenomeHeLa CellsHigh-Throughput Nucleotide SequencingHumansLong Interspersed Nucleotide ElementsMachine LearningMental DisordersMutagenesis, InsertionalNeurogliaNeuronsPregnancyRetroelementsSchizophreniaConceptsBrain developmentPossible pathological effectsAnatomical distributionBilateral distributionHuman neuronsNervous systemHuman nervous systemNeuropsychiatric diseasesNeuropsychiatric disordersGliaPathological effectsNeuronsSomatic L1 insertionsWhole-genome sequencingHuman brainSomatic retrotransposition
2020
Chapter 40 Tourette syndrome
Fasching L, Brady M, Bloch M, Lombroso P, Vaccarino F. Chapter 40 Tourette syndrome. 2020, 675-686. DOI: 10.1016/b978-0-12-813866-3.00040-0.ChaptersTourette syndromeThalamic-cortical circuitryHuman postmortem brain tissueThalamo-cortical circuitryAdult TS patientsStriatal volume lossPostmortem brain tissueEnvironmental risk factorsStriatal interneuronsDopaminergic receptorsRecurrence rateAmeliorate symptomsBasal gangliaRisk factorsFamilial recurrence ratePharmacological strategiesVocal ticsTS patientsAnimal modelsMetabolic hypofunctionComplex neuropsychiatric disorderBrain tissueMolecular abnormalitiesNeuropsychiatric disordersGenetic alterations
2017
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM, Barton A, Bekiranov S, Bohrson C, Burbulis I, Chronister W, Coppola G, Daily K, D’Gama A, Emery S, Frisbie T, Gao T, Gulyás-Kovács A, Haakenson M, Keil J, Kopera H, Lam M, Lee E, Marques-Bonet T, Mathern G, Moldovan J, Oetjens M, Omberg L, Peters M, Pochareddy S, Pramparo T, Ratan A, Sanavia T, Shi L, Skarica M, Wang J, Wang M, Wang Y, Wierman M, Wolpert M, Woodworth M, Zhao X, Zhou W. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science 2017, 356 PMID: 28450582, PMCID: PMC5558435, DOI: 10.1126/science.aal1641.Peer-Reviewed Original ResearchConceptsSomatic mutationsComplex genetic architectureStructural genomic variantsNeuronal genomeNeuronal transcriptomeGenetic architectureCell divisionCellular metabolismGenomic variantsLong life spanDNA damageComplex neuropsychiatric disorderCellular expansionNeuropsychiatric diseasesNeuropsychiatric disordersProgenitor cellsSomatic mosaicismIndividual neurodevelopmentSmall populationCell proliferationPopulation-based studyMutationsGermline variantsLife spanBrain development
2015
Chapter 107 Tourette Syndrome
Lennington J, Bloch M, Scahill L, Szuhay G, Lombroso P, Vaccarino F. Chapter 107 Tourette Syndrome. 2015, 1311-1320. DOI: 10.1016/b978-0-12-410529-4.00107-8.ChaptersTourette syndromeThalamic-cortical circuitryChildhood-onset neuropsychiatric disorderBasal ganglia circuitryStriatal interneuronsAmeliorate symptomsBasal gangliaPharmacological strategiesVocal ticsAnimal modelsPostmortem tissueNeuropsychiatric disordersSyndromeContemporary treatmentHeterogeneous disorderLarge genome-wide association studiesRecent screeningDysfunctionPotential target sitesStereotypic behaviorDisordersGenome-wide association studiesAssociation studiesChemical disruptionDopaminergic
2014
Editorial commentary: “What does immunology have to do with brain development and neuropsychiatric disorders?”
Leckman JF, Vaccarino FM. Editorial commentary: “What does immunology have to do with brain development and neuropsychiatric disorders?”. Brain Research 2014, 1617: 1-6. PMID: 25283746, DOI: 10.1016/j.brainres.2014.09.052.Commentaries, Editorials and Letters
2011
Induced pluripotent stem cells: A new tool to confront the challenge of neuropsychiatric disorders
Vaccarino FM, Stevens HE, Kocabas A, Palejev D, Szekely A, Grigorenko EL, Weissman S. Induced pluripotent stem cells: A new tool to confront the challenge of neuropsychiatric disorders. Neuropharmacology 2011, 60: 1355-1363. PMID: 21371482, PMCID: PMC3087494, DOI: 10.1016/j.neuropharm.2011.02.021.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsInduced pluripotent stem cellsUse of iPSCsPluripotent stem cellsStem cellsEmbryonic stem cellsEarly developmental eventsMature somatic cellsEarly developmental stagesSomatic cellsGenetic variationGene productsDevelopmental eventsReprogramming strategiesNeural differentiationHuman brain developmentDevelopmental stagesIPSC technologyNeurodevelopmental pathwaysDevelopmental originsGenesPotential pharmacological interventionsNew toolGenetic deficitsCellsNeuropsychiatric disordersAnnual Research Review: The promise of stem cell research for neuropsychiatric disorders
Vaccarino FM, Urban AE, Stevens HE, Szekely A, Abyzov A, Grigorenko EL, Gerstein M, Weissman S. Annual Research Review: The promise of stem cell research for neuropsychiatric disorders. Journal Of Child Psychology And Psychiatry 2011, 52: 504-516. PMID: 21204834, PMCID: PMC3124336, DOI: 10.1111/j.1469-7610.2010.02348.x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsNervous systemNeuropsychiatric disordersPsychiatric disordersAdult-onset neuropsychiatric disordersEarly onset neuropsychiatric disordersHuman neural cellsAttention deficit hyperactivity disorderStem cellsNeural stem cellsDeficit hyperactivity disorderHuman brain developmentObsessive-compulsive disorderPharmacological interventionsFunctional neuronsBrain developmentUse of iPSCsNeural cellsHyperactivity disorderTime pointsDisordersCompulsive disorderPatientsNeural differentiationDevelopmental time pointsNeurodevelopmental conditions
2010
Neural Stem Cell Regulation, Fibroblast Growth Factors, and the Developmental Origins of Neuropsychiatric Disorders
Stevens HE, Smith KM, Rash BG, Vaccarino FM. Neural Stem Cell Regulation, Fibroblast Growth Factors, and the Developmental Origins of Neuropsychiatric Disorders. Frontiers In Neuroscience 2010, 4: 59. PMID: 20877431, PMCID: PMC2944667, DOI: 10.3389/fnins.2010.00059.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsNeural stem cellsFibroblast growth factorGrowth factorPsychiatric disordersNeuropsychiatric disordersBrain-derived growth factorEmbryonic neural stem cellsNeural stem cell regulationStem cell regulationMajor depressionPsychiatric illnessAdult brainNeurodevelopmental underpinningsMental disordersNeuronal precursorsReceptor tyrosine kinasesCandidate susceptibility genesSchizophrenia 1DisordersHomeodomain genesMental retardationAbnormal specificationCell biologyDevelopmental originsMultipotent cells