2014
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, C. N, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron 2014, 84: 1226-1239. PMID: 25521378, PMCID: PMC5024344, DOI: 10.1016/j.neuron.2014.12.014.Peer-Reviewed Original ResearchConceptsComplex cerebral malformationsCerebral cortical malformationsMicrotubule-severing enzyme kataninExome sequencing analysisMitotic spindle formationDrosophila optic lobeCerebral malformationsPatient-derived fibroblastsCell cycle progression delayCortical malformationsMotor neuronsComplex malformationsMicrotubule-associated proteinsCortical developmentReduced cell numberOptic lobeRegulatory subunitBrain developmentCatalytic subunitDeleterious mutationsSpindle formationSupernumerary centrosomesArborization defectsMalformationsHuman phenotypes
2004
Presenilin 1 in migration and morphogenesis in the central nervous system
Louvi A, Sisodia SS, Grove EA. Presenilin 1 in migration and morphogenesis in the central nervous system. Development 2004, 131: 3093-3105. PMID: 15163631, DOI: 10.1242/dev.01191.Peer-Reviewed Original ResearchMeSH KeywordsAmyloid Precursor Protein SecretasesAnimalsAspartic Acid EndopeptidasesBrainBrain StemBromodeoxyuridineCell DifferentiationCell DivisionCell MovementCentral Nervous SystemCerebellumColoring AgentsCyclin-Dependent Kinase 5Cyclin-Dependent KinasesCytoskeletonDopamine AgentsEndopeptidasesGene Expression Regulation, DevelopmentalHomozygoteImmunohistochemistryIn Situ HybridizationLightMembrane ProteinsMiceMutationNeuronsPresenilin-1Time FactorsConceptsCentral nervous systemNervous systemPresenilin 1Premature neuronal differentiationCNS morphogenesisCerebral cortexCortical dysplasiaCortical laminationExternal granule layerPontine nucleiPresenilin-1 functionCerebellar granule cell precursorsFacial branchiomotor nucleusTangential migratory pathwayCaudal midbrainGranule cell precursorsNeuronal cellsBrain developmentNeuronal migrationTangential migrationBranchiomotor nucleiCell precursorsNeuronal differentiationGranule layerMidline fusion
1997
Insulin-like growth factor II stimulates cell proliferation through the insulin receptor
Morrione A, Valentinis B, Xu S, Yumet G, Louvi A, Efstratiadis A, Baserga R. Insulin-like growth factor II stimulates cell proliferation through the insulin receptor. Proceedings Of The National Academy Of Sciences Of The United States Of America 1997, 94: 3777-3782. PMID: 9108054, PMCID: PMC20517, DOI: 10.1073/pnas.94.8.3777.Peer-Reviewed Original ResearchConceptsInsulin receptorSerum-free mediumType 1 insulin-like growth factor receptorCell proliferationInsulin-like growth factor receptorR cellsIGF-IIWild-type counterpartsGrowth factor receptorGrowth factor supplementationInsulin-like growth factor IITargeted disruptionFactor receptorGrowth factor IIFactor supplementationGrowth factorPlasmidAdditional plasmidsCellsReceptorsFactor IIProliferationGenesIGF1RFibroblasts