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
2011
Cilia in the CNS: The Quiet Organelle Claims Center Stage
Louvi A, Grove EA. Cilia in the CNS: The Quiet Organelle Claims Center Stage. Neuron 2011, 69: 1046-1060. PMID: 21435552, PMCID: PMC3070490, DOI: 10.1016/j.neuron.2011.03.002.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCentral Nervous SystemCiliaHedgehog ProteinsHumansNeurogenesisSignal TransductionConceptsPrimary ciliaSonic hedgehog (Shh) signal transductionHedgehog signal transductionHuman disease syndromesProtein traffickingBrain tumor formationSignal transductionCellular organellesGenetic disruptionSpecialized modeNeuronal signalingCiliaTumor formationAdult CNSAdult neurogenesisEukaryotesVertebratesOrganellesTransductionTraffickingSignalingBiologyDisease syndromeMajor linesNeurogenesis