Featured Publications
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
1995
Vasoactive intestinal polypeptide and its receptor changes in human temporal lobe epilepsy
de Lanerolle NC, Gunel M, Sundaresan S, Shen MY, Brines ML, Spencer DD. Vasoactive intestinal polypeptide and its receptor changes in human temporal lobe epilepsy. Brain Research 1995, 686: 182-193. PMID: 7583284, DOI: 10.1016/0006-8993(95)00365-w.Peer-Reviewed Original ResearchConceptsTemporal lobe epilepsyTemporal lobe lesionsLobe epilepsySeizure focusLobe lesionsCA fieldsReceptor distributionHuman hippocampusHuman temporal lobe epilepsyIntractable temporal lobe epilepsyHippocampal seizure focusHippocampal neuronal lossVasoactive intestinal polypeptideDentate molecular layerAutopsy hippocampiVIP immunoreactivityNeuronal lossIntestinal polypeptidePatient groupReceptor autoradiographyReceptor changesTLE patientsIntestinal peptideNeuronal numberAmmon's horn