2023
Early Neuronal Differentiation/patterning of the Human Pallium, Modeling by in Vitro Systems, and Disruption in Developmental Disorders
Scuderi S, Jourdon A, Vaccarino F. Early Neuronal Differentiation/patterning of the Human Pallium, Modeling by in Vitro Systems, and Disruption in Developmental Disorders. 2023, 423-442. DOI: 10.1002/9781119860914.ch20.Peer-Reviewed Original ResearchCentral nervous systemDorsal-anterior partHuman cortexCortical developmentInhibitory neuronsSingle-cell omicsAnimal modelsNervous systemCortical layersMammalian brainBrain regionsCortical formationPopulations of excitatoryTangential migrationAltered developmentCortical structuresAnterior partCortical patterningPrecursor cellsEarly neuronal differentiationIncoming afferentsCortexNeuronal differentiationNeuronsHuman specificityNeonatal loss of FGFR2 in astroglial cells affects locomotion, sociability, working memory, and glia-neuron interactions in mice
Stevens H, Scuderi S, Collica S, Tomasi S, Horvath T, Vaccarino F. Neonatal loss of FGFR2 in astroglial cells affects locomotion, sociability, working memory, and glia-neuron interactions in mice. Translational Psychiatry 2023, 13: 89. PMID: 36906620, PMCID: PMC10008554, DOI: 10.1038/s41398-023-02372-y.Peer-Reviewed Original ResearchConceptsFibroblast growth factor receptor 2Anxiety-like behaviorAttention deficit hyperactivity disorderAstroglial cellsGrowth factor receptor 2Reduced anxiety-like behaviorGlia-neuron interactionsAstroglial cell functionEarly postnatal periodFactor receptor 2Early postnatal lossPostnatal mouse brainWeeks of ageDeficit hyperactivity disorderGlial cellsGlutamine synthetase expressionBehavioral deficitsPostnatal periodReceptor 2Floxed miceHGFAP-CreMouse brainNeonatal lossPostnatal astrogliaPostnatal loss
2021
Cell-to-Cell Adhesion and Neurogenesis in Human Cortical Development: A Study Comparing 2D Monolayers with 3D Organoid Cultures
Scuderi S, Altobelli GG, Cimini V, Coppola G, Vaccarino FM. Cell-to-Cell Adhesion and Neurogenesis in Human Cortical Development: A Study Comparing 2D Monolayers with 3D Organoid Cultures. Stem Cell Reports 2021, 16: 264-280. PMID: 33513360, PMCID: PMC7878838, DOI: 10.1016/j.stemcr.2020.12.019.Peer-Reviewed Original Research
2020
Complex mosaic structural variations in human fetal brains
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck F, Urban AE, Vaccarino F, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Research 2020, 30: gr.262667.120. PMID: 33122304, PMCID: PMC7706730, DOI: 10.1101/gr.262667.120.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsStructural variantsMegabase-scale copy number variantsHuman fetal brainFunctional consequencesMobile element insertionsSimilar functional consequencesFetal brainMosaic single-nucleotide variantsAdult brain neuronsStructural variationsPotential functional consequencesKilobase scaleDNA eventsGenomic fragmentDifferent chromosomesElement insertionsClonal approachHuman brain cellsFetal human brainNucleotide variantsReplication errorsHuman brainNumber variantsPsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids
Jourdon A, Scuderi S, Capauto D, Abyzov A, Vaccarino FM. PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids. Neuropsychopharmacology 2020, 46: 70-85. PMID: 32659782, PMCID: PMC7689467, DOI: 10.1038/s41386-020-0763-3.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsRecent single-cell technologiesGene regulatory networksSingle-cell technologiesMulti-omics investigationsPluripotent stem cellsTranscriptional dynamicsBrain developmentCell fateEpigenomic datasetsRegulatory networksElement activityNeural lineagesStem cellsBrain organoidsOrganoidsBiological modelsFetal brainPsychENCODEBrain biologyMajor questionsEpigenomicsFetal tissuesTranscriptomicsLineagesBiologyThe role of somatic mosaicism in brain disease
Jourdon A, Fasching L, Scuderi S, Abyzov A, Vaccarino FM. The role of somatic mosaicism in brain disease. Current Opinion In Genetics & Development 2020, 65: 84-90. PMID: 32622340, PMCID: PMC7749073, DOI: 10.1016/j.gde.2020.05.002.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsChapter 5 Induced pluripotent stem cells as models of human neurodevelopmental disorders
Jourdon A, Mariani J, Scuderi S, Amiri A, Wu F, Yuen E, Abyzov A, Vaccarino F. Chapter 5 Induced pluripotent stem cells as models of human neurodevelopmental disorders. 2020, 99-127. DOI: 10.1016/b978-0-12-814409-1.00005-7.ChaptersPluripotent stem cellsStem cellsStudy of speciesHuman neurodevelopmental disordersEpigenome analysisGene regulationIPSC fieldGenomic variationGene expressionGenetic backgroundDisease modelingStudies of neurodevelopmentIPSCsExperimental approachNeurodevelopmental disordersTranscriptomeGenomeCellsCell phenotypingSpeciesExperimental design issuesPhenotypeRegulationExpressionPhenotyping
2018
Transcriptome and epigenome landscape of human cortical development modeled in organoids
Amiri A, Coppola G, Scuderi S, Wu F, Roychowdhury T, Liu F, Pochareddy S, Shin Y, Safi A, Song L, Zhu Y, Sousa AMM, Gerstein M, Crawford G, Sestan N, Abyzov A, Vaccarino F, Akbarian S, An J, Armoskus C, Ashley-Koch A, Beach T, Belmont J, Bendl J, Borrman T, Brown L, Brown M, Brown M, Brunetti T, Bryois J, Burke E, Camarena A, Carlyle B, Chae Y, Charney A, Chen C, Cheng L, Cherskov A, Choi J, Clarke D, Collado-Torres L, Dai R, De La Torre Ubieta L, DelValle D, Devillers O, Dracheva S, Emani P, Evgrafov O, Farnham P, Fitzgerald D, Flatow E, Francoeur N, Fullard J, Gandal M, Gao T, Garrett M, Geschwind D, Giase G, Girdhar K, Giusti-Rodriguez P, Goes F, Goodman T, Grennan K, Gu M, Gürsoy G, Hadjimichael E, Hahn C, Haroutunian V, Hauberg M, Hoffman G, Huey J, Hyde T, Ivanov N, Jacobov R, Jaffe A, Jiang Y, Jiang Y, Johnson G, Kassim B, Kefi A, Kim Y, Kitchen R, Kleiman J, Knowles J, Kozlenkov A, Li M, Li Z, Lipska B, Liu C, Liu S, Mangravite L, Mariani J, Mattei E, Miller D, Moore J, Nairn A, Navarro F, Park R, Peters M, Pinto D, Pochareddy S, Polioudakis D, Pratt H, Price A, Purcaro M, Ray M, Reddy T, Rhie S, Roussos P, Sanders S, Santpere G, Schreiner S, Sheppard B, Shi X, Shieh A, Shin J, Skarica M, Song L, Sousa A, Spitsyna V, State M, Sullivan P, Swarup V, Szatkiewicz J, Szekely A, Tao R, van Bakel H, Wang Y, Wang D, Warrell J, Webster M, Weissman S, Weng Z, Werling D, White K, Willsey J, Wiseman J, Witt H, Won H, Wray G, Xia Y, Xu M, Yang Y, Yang M, Zandi P, Zhang J, Zharovsky E. Transcriptome and epigenome landscape of human cortical development modeled in organoids. Science 2018, 362 PMID: 30545853, PMCID: PMC6426303, DOI: 10.1126/science.aat6720.Peer-Reviewed Original Research
2016
Heparin-binding EGF-like growth factor in diagnosis of malignant phyllodes tumor of the breast: a case report
Musumeci G, Trovato F, Szychlinska M, Scuderi S, Fidone F, Imbesi R, Castrogiovanni P. Heparin-binding EGF-like growth factor in diagnosis of malignant phyllodes tumor of the breast: a case report. Gazzetta Medica Italiana Archivio Per Le Scienze Mediche 2016, 176 DOI: 10.23736/s0393-3660.16.03300-3.Peer-Reviewed Original ResearchEffects of Synthetic Anti-Inflammatory Sterol in CB3V-Induced Myocarditis: A Morphological Study on Heart Muscle Tissue
Castrogiovanni P, Trovato F, Szychlinska M, Loreto C, Giunta S, Scuderi S, Passanisi R, Fidone F, Fagone P, Imbesi R, Nicoletti F, Castorina S. Effects of Synthetic Anti-Inflammatory Sterol in CB3V-Induced Myocarditis: A Morphological Study on Heart Muscle Tissue. Journal Of Functional Morphology And Kinesiology 2016, 1: 69-89. DOI: 10.3390/jfmk1010069.Peer-Reviewed Original ResearchCell-mediated immune eventsBALB/c miceBetter histological structureDex-treated micePathogenesis of myocarditisCoxsackie B3 virusGroup B coxsackievirusesHeart muscle tissueInflammatory infiltrationImmune eventsOral gavageAutoimmune diseasesCytokine expressionImmunohistochemical findingsC miceHistological signsComplete resolutionIntraperitoneal administrationInflammatory responseTherapeutic roleMyocarditisHE3286Immunohistochemical analysisB3 virusB coxsackieviruses
2015
The PsychENCODE project
Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N. The PsychENCODE project. Nature Neuroscience 2015, 18: 1707-1712. PMID: 26605881, PMCID: PMC4675669, DOI: 10.1038/nn.4156.Peer-Reviewed Original ResearchChanges in serotonin (5-HT) and brain-derived neurotrophic factor (BDFN) expression in frontal cortex and hippocampus of aged rat treated with high tryptophan diet
Musumeci G, Castrogiovanni P, Castorina S, Imbesi R, Szychlinska M, Scuderi S, Loreto C, Giunta S. Changes in serotonin (5-HT) and brain-derived neurotrophic factor (BDFN) expression in frontal cortex and hippocampus of aged rat treated with high tryptophan diet. Brain Research Bulletin 2015, 119: 12-18. PMID: 26444078, DOI: 10.1016/j.brainresbull.2015.09.010.Peer-Reviewed Original ResearchConceptsFrontal cortexHigh TrP dietDentate gyrusTrp dietBrain areasBrain-derived neurotrophic factor (BDNF) expressionBrain-derived neurotrophic factorHigh-tryptophan dietNeuroplasticity-related moleculesBDNF protein expressionNeurotrophic factor expressionHippocampal region CA1Normal aging processAge-related cognitive declineChronic dietDiet protectsTryptophan dietWestern blot analysisBDNF expressionBDNF increaseBDNF systemNeurotrophin levelsAge-related declineTrp intakeNeurotrophic factorEmerging Role of PACAP as a New Potential Therapeutic Target in Major Diabetes Complications
Marzagalli R, Scuderi S, Drago F, Waschek J, Castorina A. Emerging Role of PACAP as a New Potential Therapeutic Target in Major Diabetes Complications. International Journal Of Endocrinology 2015, 2015: 160928. PMID: 26074958, PMCID: PMC4446501, DOI: 10.1155/2015/160928.Peer-Reviewed Original ResearchMajor complicationsNeuropeptide pituitary adenylate cyclaseMajor diabetes complicationsMajor diabetic complicationsNew potential therapeutic targetsCause of morbidityCause of diabetesPituitary adenylate cyclasePotential therapeutic targetRole of PACAPPancreatic islet dysfunctionLongstanding diabetesDiabetes complicationsRange of pathologiesDiabetic complicationsHyperglycemic stateMillions of individualsIslet dysfunctionPeptide-based therapiesComplicationsTherapeutic targetDiabetesAdenylate cyclaseSecondary damageLife expectancyDifferent Retinal Expression Patterns of IL-1α, IL-1β, and Their Receptors in a Rat Model of Type 1 STZ-Induced Diabetes
Scuderi S, D’amico A, Federico C, Saccone S, Magro G, Bucolo C, Drago F, D’Agata V. Different Retinal Expression Patterns of IL-1α, IL-1β, and Their Receptors in a Rat Model of Type 1 STZ-Induced Diabetes. Journal Of Molecular Neuroscience 2015, 56: 431-439. PMID: 25676032, DOI: 10.1007/s12031-015-0505-x.Peer-Reviewed Original ResearchConceptsIL-1 family membersDiabetic retinopathyIL-1αRetinal layersIL-1raIL-1βIL-1RIInvolvement of inflammationGanglion cell layerNew pharmacological approachesRetinal expression patternType 1 diabetesEffects of hyperglycemiaReceptor IL-1RIFamily membersCommon complicationDiabetic patientsDiabetic ratsProinflammatory cytokinesInflammatory processInterleukin-1βIntraperitoneal injectionRat modelInner plexiformIL-1RII
2014
Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain
Scuderi S, La Cognata V, Drago F, Cavallaro S, D′Agata V. Alternative Splicing Generates Different Parkin Protein Isoforms: Evidences in Human, Rat, and Mouse Brain. BioMed Research International 2014, 2014: 690796. PMID: 25136611, PMCID: PMC4124806, DOI: 10.1155/2014/690796.Peer-Reviewed Original ResearchConceptsExtensive alternative splicingParkinson protein 2Parkin isoformsAutosomal recessive early-onset Parkinson's diseaseTranscriptomic diversificationRecessive early-onset Parkinson's diseaseEncoded proteinsAlternative splicingPrimary transcriptGene mutationsExpression patternsGene transcriptsHuman pathologiesSplice variantsParkin deficiencyAmino acidsProtein 2Early-onset Parkinson's diseaseSporadic Parkinson's diseaseIsoformsElectrophoretic mobilityOnset Parkinson's diseaseTranscriptsProteinJuvenile Parkinson's diseaseIncreasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene
La Cognata V, Iemmolo R, D’Agata V, Scuderi S, Drago F, Zappia M, Cavallaro S. Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene. Current Genomics 2014, 15: 203-216. PMID: 24955028, PMCID: PMC4064560, DOI: 10.2174/1389202915666140426003342.Peer-Reviewed Original ResearchAlternative splicingTrans-acting mutationsE3 ubiquitin protein ligaseHuman disease genesMultiple protein isoformsUbiquitin-protein ligaseExtensive alternative splicingParkinson protein 2Alternative splice transcriptsHuman Genome ProjectTranscriptomic diversificationProtein diversityCellular lifeIndividual genesWidespread mechanismGenetic regulationProtein ligasePrimary transcriptProtein isoformsSingle geneSplicing featuresGenome ProjectCoding PotentialDisease genesSplicingNAP Reduces Murine Microvascular Endothelial Cells Proliferation Induced by Hyperglycemia
D’Amico A, Scuderi S, Maugeri G, Cavallaro S, Drago F, D’Agata V. NAP Reduces Murine Microvascular Endothelial Cells Proliferation Induced by Hyperglycemia. Journal Of Molecular Neuroscience 2014, 54: 405-413. PMID: 24874579, DOI: 10.1007/s12031-014-0335-2.Peer-Reviewed Original ResearchConceptsProtein kinase/extracellular signal-regulated protein kinaseExtracellular signal-regulated protein kinaseMitogen-activated protein kinase/extracellular signal-regulated protein kinaseSignal-regulated protein kinaseKinase/Akt pathwayEndothelial cell proliferationPhosphatidylinositol-3-kinase/Akt pathwayCell proliferationProtein expression analysisProtein kinaseExpression analysisBiological roleAkt pathwayPhosphorylation levelsTime-dependent mannerHigh glucoseMurine microvascular endothelial cellsMicrovascular endothelial cell proliferationMicrovascular endothelial cellsEndothelial cellsProliferationMTT assayCellsDavunetide (NAP) Protects the Retina Against Early Diabetic Injury by Reducing Apoptotic Death
Scuderi S, D’Amico A, Castorina A, Federico C, Marrazzo G, Drago F, Bucolo C, D’Agata V. Davunetide (NAP) Protects the Retina Against Early Diabetic Injury by Reducing Apoptotic Death. Journal Of Molecular Neuroscience 2014, 54: 395-404. PMID: 24488575, DOI: 10.1007/s12031-014-0244-4.Peer-Reviewed Original ResearchConceptsNAP treatmentRetinas of STZSingle intraocular injectionCaspase-3 expression levelsRetinal degenerative diseasesMAPK/ERK pathwayPhosphatidylinositol-3-kinase/Akt pathwayMitogen-activated protein kinase/extracellular signal-regulated protein kinaseDiabetes inductionDiabetic injuryDiabetic retinaSTZ injectionNeuroprotective effectsDiabetic modelIntraocular injectionPotent neuroprotectionDiabetic retinopathyVivo streptozotocinRetinal expressionProtein kinase/extracellular signal-regulated protein kinaseAmino acid peptideKinase/Akt pathwayP-AktP-ERKApoptosis markers
2013
PACAP and VIP increase the expression of myelin-related proteins in rat schwannoma cells: Involvement of PAC1/VPAC2 receptor-mediated activation of PI3K/Akt signaling pathways
Castorina A, Scuderi S, D’Amico A, Drago F, D’Agata V. PACAP and VIP increase the expression of myelin-related proteins in rat schwannoma cells: Involvement of PAC1/VPAC2 receptor-mediated activation of PI3K/Akt signaling pathways. Experimental Cell Research 2013, 322: 108-121. PMID: 24246222, DOI: 10.1016/j.yexcr.2013.11.003.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell Line, TumorEnzyme ActivationGene Expression Regulation, NeoplasticMyelin Basic ProteinMyelin P0 ProteinMyelin ProteinsMyelin-Associated GlycoproteinOncogene Protein v-aktPhosphatidylinositol 3-KinasesPituitary Adenylate Cyclase-Activating PolypeptideRatsReceptors, Pituitary Adenylate Cyclase-Activating Polypeptide, Type IReceptors, Vasoactive Intestinal Peptide, Type IISchwann CellsSignal TransductionVasoactive Intestinal PeptideConceptsPI3K/AktMyelin proteinsMyelin markersVIP receptor antagonistMyelin-related proteinsStarvation-induced expressionCanonical PI3K/AktSpecific pathway inhibitorsRat Schwannoma cell lineReceptor-mediated activationPI3K inhibitorsPhosphorylation of AktNM PACAPPACAP6-38Underlying molecular mechanismsEndogenous PACAPPhosphorylated ERK 1/2Schwannoma cell lineReceptor antagonistPeripheral expressionMyelin gene expressionRat schwannoma cellsPharmacological approachesSer473 residueNormal serumIncreased Hippocampal CREB Phosphorylation in Dopamine D3 Receptor Knockout Mice Following Passive Avoidance Conditioning
D’Amico A, Scuderi S, Leggio G, Castorina A, Drago F, D’Agata V. Increased Hippocampal CREB Phosphorylation in Dopamine D3 Receptor Knockout Mice Following Passive Avoidance Conditioning. Neurochemical Research 2013, 38: 2516-2523. PMID: 24100927, DOI: 10.1007/s11064-013-1164-3.Peer-Reviewed Original ResearchConceptsMitogen-activated protein kinaseCAMP response element-binding proteinNuclear transcription factor cAMP response element-binding proteinTranscription factor cAMP response element-binding proteinExtracellular signal-regulated kinase 1/2C-Jun N-terminal kinaseCREB phosphorylationSignal-regulated kinase 1/2Response element-binding proteinElement-binding proteinProtein kinaseDe novo synthesisKinase 1/2ERK signalingAkt activationBinding proteinPhosphorylationPhosphorylation levelsP38 phosphorylationGenetic backgroundKnockout mice displayNovo synthesisKinaseSynaptic functionAkt