2024
Cell-specific cross-talk proteomics reveals cathepsin B signaling as a driver of glioblastoma malignancy near the subventricular zone
Norton E, Whaley L, Jones V, Brooks M, Russo M, Morderer D, Jessen E, Schiapparelli P, Ramos-Fresnedo A, Zarco N, Carrano A, Rossoll W, Asmann Y, Lam T, Chaichana K, Anastasiadis P, Quiñones-Hinojosa A, Guerrero-Cázares H. Cell-specific cross-talk proteomics reveals cathepsin B signaling as a driver of glioblastoma malignancy near the subventricular zone. Science Advances 2024, 10: eadn1607. PMID: 39110807, PMCID: PMC11305394, DOI: 10.1126/sciadv.adn1607.Peer-Reviewed Original ResearchConceptsBrain tumor-initiating cellsLateral ventricleNeuronal maturationMalignancy-associated phenotypesSubventricular zone contactIncreased expression of cathepsin BMalignant primary brain tumorTumor-initiating cellsAggressive malignant primary brain tumorPrimary brain tumorTumor microenvironment researchExpression of cathepsin BNeural stem/progenitor cellsCathepsin BInduction of senescenceStem/progenitor cellsCell-intrinsicSubventricular zoneCross-talkTherapeutic strategiesBrain tumorsIncreased expressionGBM biologyLentiviral knockdownGlioblastomaMultiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability
Mihailovich M, Germain P, Shyti R, Pozzi D, Noberini R, Liu Y, Aprile D, Tenderini E, Troglio F, Trattaro S, Fabris S, Ciptasari U, Rigoli M, Caporale N, D’Agostino G, Mirabella F, Vitriolo A, Capocefalo D, Skaros A, Franchini A, Ricciardi S, Biunno I, Neri A, Kasri N, Bonaldi T, Aebersold R, Matteoli M, Testa G. Multiscale modeling uncovers 7q11.23 copy number variation–dependent changes in ribosomal biogenesis and neuronal maturation and excitability. Journal Of Clinical Investigation 2024, 134: e168982. PMID: 39007270, PMCID: PMC11245157, DOI: 10.1172/jci168982.Peer-Reviewed Original ResearchConceptsCopy number variationsWilliams-Beuren syndromeRibosome biogenesisP-RPS6Neurodevelopmental disordersRibosomal genesP-4EBPNumber variationsTranslation factorsMicroduplication syndromeMolecular mechanismsGenesNeuronal differentiationPatient-derivedIntrinsic excitabilityMTOR pathwayBiogenesisNeuronal maturationPhosphorylated rpS6Neuronal transmissionWilliams-BeurenPathophysiological relevanceNeurocognitive featuresIntellectual disabilityDisease modelsCross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Wen C, Margolis M, Dai R, Zhang P, Przytycki P, Vo D, Bhattacharya A, Matoba N, Tang M, Jiao C, Kim M, Tsai E, Hoh C, Aygün N, Walker R, Chatzinakos C, Clarke D, Pratt H, Peters M, Gerstein M, Daskalakis N, Weng Z, Jaffe A, Kleinman J, Hyde T, Weinberger D, Bray N, Sestan N, Geschwind D, Roeder K, Gusev A, Pasaniuc B, Stein J, Love M, Pollard K, Liu C, Gandal M, Akbarian S, Abyzov A, Ahituv N, Arasappan D, Almagro Armenteros J, Beliveau B, Bendl J, Berretta S, Bharadwaj R, Bicks L, Brennand K, Capauto D, Champagne F, Chatterjee T, Chatzinakos C, Chen Y, Chen H, Cheng Y, Cheng L, Chess A, Chien J, Chu Z, Clement A, Collado-Torres L, Cooper G, Crawford G, Davila-Velderrain J, Deep-Soboslay A, Deng C, DiPietro C, Dracheva S, Drusinsky S, Duan Z, Duong D, Dursun C, Eagles N, Edelstein J, Emani P, Fullard J, Galani K, Galeev T, Gaynor S, Girdhar K, Goes F, Greenleaf W, Grundman J, Guo H, Guo Q, Gupta C, Hadas Y, Hallmayer J, Han X, Haroutunian V, Hawken N, He C, Henry E, Hicks S, Ho M, Ho L, Hoffman G, Huang Y, Huuki-Myers L, Hwang A, Iatrou A, Inoue F, Jajoo A, Jensen M, Jiang L, Jin P, Jin T, Jops C, Jourdon A, Kawaguchi R, Kellis M, Kleopoulos S, Kozlenkov A, Kriegstein A, Kundaje A, Kundu S, Lee C, Lee D, Li J, Li M, Lin X, Liu S, Liu J, Liu J, Liu S, Lou S, Loupe J, Lu D, Ma S, Ma L, Mariani J, Martinowich K, Maynard K, Mazariegos S, Meng R, Myers R, Micallef C, Mikhailova T, Ming G, Mohammadi S, Monte E, Montgomery K, Moore J, Moran J, Mukamel E, Nairn A, Nemeroff C, Ni P, Norton S, Nowakowski T, Omberg L, Page S, Park S, Patowary A, Pattni R, Pertea G, Phalke N, Pinto D, Pjanic M, Pochareddy S, Pollen A, Purmann C, Qin Z, Qu P, Quintero D, Raj T, Rajagopalan A, Reach S, Reimonn T, Ressler K, Ross D, Roussos P, Rozowsky J, Ruth M, Ruzicka W, Sanders S, Schneider J, Scuderi S, Sebra R, Seyfried N, Shao Z, Shedd N, Shieh A, Shin J, Skarica M, Snijders C, Song H, State M, Steyert M, Subburaju S, Sudhof T, Snyder M, Tao R, Therrien K, Tsai L, Urban A, Vaccarino F, van Bakel H, Voloudakis G, Wamsley B, Wang T, Wang S, Wang D, Wang Y, Warrell J, Wei Y, Weimer A, Whalen S, White K, Willsey A, Won H, Wong W, Wu H, Wu F, Wuchty S, Wylie D, Xu S, Yap C, Zeng B, Zhang C, Zhang B, Zhang J, Zhang Y, Zhou X, Ziffra R, Zeier Z, Zintel T. Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain. Science 2024, 384: eadh0829. PMID: 38781368, PMCID: PMC12147038, DOI: 10.1126/science.adh0829.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide association study lociSplicing quantitative trait lociQuantitative trait lociSplicing regulationCross-ancestryTrait lociAssociation studiesRegulatory elementsCellular contextHuman brainTranscriptome regulationCoexpression networkRisk genesAutism spectrum disorderGenesCellular heterogeneityComprehensive landscapeSpectrum disorderIsoformsSplicingIncreased cellular heterogeneityLociNeuronal maturationRegulation
2021
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
Urresti J, Zhang P, Moran-Losada P, Yu N, Negraes P, Trujillo C, Antaki D, Amar M, Chau K, Pramod A, Diedrich J, Tejwani L, Romero S, Sebat J, Yates III J, Muotri A, Iakoucheva L. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Molecular Psychiatry 2021, 26: 7560-7580. PMID: 34433918, PMCID: PMC8873019, DOI: 10.1038/s41380-021-01243-6.Peer-Reviewed Original ResearchConceptsCortical organoidsCommon copy number variationNeural progenitorsRatio of neuronsPotential neurobiological mechanismsOrganoid sizeEarly brain developmentSynapse numberNeuronal maturationMigration deficitsBrain developmentNeurodevelopmental processesIon channel activityNeurobiological mechanismsNeuron migrationNeocortical developmentSkin fibroblastsChannel activityPatientsEarly neurogenesisMicrocephaly phenotypeNeurite outgrowthNeuronsAutism spectrum disorderSmall GTPase RhoA
2019
aPKC in neuronal differentiation, maturation and function
Hapak SM, Rothlin CV, Ghosh S. aPKC in neuronal differentiation, maturation and function. Neuronal Signaling 2019, 3: ns20190019. PMID: 32269838, PMCID: PMC7104321, DOI: 10.1042/ns20190019.BooksProtein kinase C (PKC) familyAtypical protein kinase CsProtein kinase CsKey metabolic functionsNervous system developmentHuman neuropsychiatric diseasesC familyCellular responsesAPKCsNeural developmentNeuronal differentiationFunctional roleMetabolic functionsNervous systemNeuronal maturationNeuronal functionGenetic deletionKinaseGlucose uptakeDifferentiationLikely candidateMaturationNeuropsychiatric diseasesSubfamiliesPRKCI
2017
Cerebral organoids reveal early cortical maldevelopment in schizophrenia—computational anatomy and genomics, role of FGFR1
Stachowiak E, Benson C, Narla S, Dimitri A, Chuye L, Dhiman S, Harikrishnan K, Elahi S, Freedman D, Brennand K, Sarder P, Stachowiak M. Cerebral organoids reveal early cortical maldevelopment in schizophrenia—computational anatomy and genomics, role of FGFR1. Translational Psychiatry 2017, 7: 6. PMID: 30446636, PMCID: PMC5802550, DOI: 10.1038/s41398-017-0054-x.Peer-Reviewed Original ResearchConceptsNeural progenitor cellsCerebral organoidsSchizophrenia patientsVentricular zoneInduced pluripotent stem cellsCortical neuronal maturationUtero brain developmentRole of FGFR1Stem cellsIntracortical connectivityFirst trimesterCortical maldevelopmentCortical malformationsPreventive treatmentCalretinin interneuronsNeuronal maturationSubcortical regionsControl individualsPioneer neuronsCortical zoneBrain developmentHuman embryonic stem cellsProgenitor cellsIntegrative nuclear FGFR1FGFR1 gene
2013
Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain
Guo J, Su Y, Shin J, Shin J, Li H, Xie B, Zhong C, Hu S, Le T, Fan G, Zhu H, Chang Q, Gao Y, Ming G, Song H. Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain. Nature Neuroscience 2013, 17: 215-222. PMID: 24362762, PMCID: PMC3970219, DOI: 10.1038/nn.3607.Peer-Reviewed Original ResearchConceptsCpH methylationNon-CpG cytosinesNon-CpG methylationSingle-base resolutionDNA methylome profilingDNA methyltransferase DNMT3ARepress transcriptionCpG dinucleotidesMethyltransferase DNMT3AProtein MeCP2DNANeuronal maturationMethylationMammalian brainDentate gyrus neuronsAdult mammalian brainCpGTranscriptionDinucleotideSecreted Frizzled-Related Protein 3 Regulates Activity-Dependent Adult Hippocampal Neurogenesis
Jang M, Bonaguidi M, Kitabatake Y, Sun J, Song J, Kang E, Jun H, Zhong C, Su Y, Guo J, Wang M, Sailor K, Kim J, Gao Y, Christian K, Ming G, Song H. Secreted Frizzled-Related Protein 3 Regulates Activity-Dependent Adult Hippocampal Neurogenesis. Cell Stem Cell 2013, 12: 215-223. PMID: 23395446, PMCID: PMC3569732, DOI: 10.1016/j.stem.2012.11.021.Peer-Reviewed Original ResearchConceptsNeural stem cellsAdult neurogenesisGranule neuronsStem cellsMature dentate granule neuronsDentate gyrus granule neuronsActivity-dependent regulationActivity-dependent mechanismsAdult mouse hippocampusDentate granule neuronsNeuronal circuit activityRegulates multiple phasesRadial neural stem cellsAdult neural stem cellsAdult hippocampal neurogenesisSecreted Wnt inhibitorNeural progenitor proliferationTonic inhibitionDendritic spine formationAcute releaseMature neuronsNeuronal maturationProgenitor proliferationWnt inhibitorsNeuronal activity
2011
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Kim KY, Hysolli E, Park IH. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 14169-14174. PMID: 21807996, PMCID: PMC3161557, DOI: 10.1073/pnas.1018979108.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceBase SequenceBiomarkersCell DifferentiationChildChild, PreschoolChromosomes, Human, XEmbryonic Stem CellsFemaleFibroblastsGene Expression RegulationHumansInduced Pluripotent Stem CellsKruppel-Like Factor 4Methyl-CpG-Binding Protein 2Molecular Sequence DataNeuronsRett SyndromeX Chromosome InactivationConceptsX chromosomePluripotent stem cellsSingle active X chromosomeRett syndromeActive X chromosomePathophysiology of RTTX-chromosome inactivationStem cellsInduced pluripotent stem cellsRTT fibroblastsMurine genetic modelsMolecular dissectionChromosome inactivationFactors OCT4Methyl-CpGRTT phenotypeNeuronal differentiationChromosomesPurposeful hand movementsNormal developmentRTT modelModel of RTTProtein 2Maturation defectsNeuronal maturation
2010
Neurobiology of Adolescent Substance Use Disorders: Implications for Prevention and Treatment
Rutherford HJ, Mayes LC, Potenza MN. Neurobiology of Adolescent Substance Use Disorders: Implications for Prevention and Treatment. Child And Adolescent Psychiatric Clinics Of North America 2010, 19: 479-492. PMID: 20682216, PMCID: PMC2928062, DOI: 10.1016/j.chc.2010.03.003.Peer-Reviewed Original ResearchConceptsSubstance use disordersAdolescent substance use disordersUse disordersBehavioral risk takingAdult studiesNeuronal maturationLikely markerPotential treatmentDisordersAdolescent substanceTreatmentPreventionRisky behaviorsNormative adolescent developmentNeurobiologyAdolescenceAdolescent developmentPeriodMicroRNA miR‐137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb‐1
Smrt RD, Szulwach KE, Pfeiffer RL, Li X, Guo W, Pathania M, Teng Z, Luo Y, Peng J, Bordey A, Jin P, Zhao X. MicroRNA miR‐137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb‐1. Stem Cells 2010, 28: 1060-1070. PMID: 20506192, PMCID: PMC3140955, DOI: 10.1002/stem.431.Peer-Reviewed Original ResearchConceptsNeuronal maturationMiR-137Dendritic morphogenesisSpine developmentNovel miRNA-mediated mechanismCultured primary neuronsMiR-137 overexpressionConserved target sitesMiR-137 targetsBrain-enriched microRNAYoung neuronsMicroRNA miR-137Phenotypic maturationPrimary neuronsAxonal growthMiRNA-mediated mechanismMIB1Mind bomb-1NeuronsMessenger RNAMaturationOpposite effectOverexpressionMicroRNAsNeurodevelopment
1984
Neurotransmitter Ontogeny as a Perspective for Studies of Child Development and Pathology
Young J, Cohen D, Anderson G, Shaywitz B. Neurotransmitter Ontogeny as a Perspective for Studies of Child Development and Pathology. 1984, 51-84. DOI: 10.1007/978-94-011-6701-7_4.Peer-Reviewed Original Research
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