2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2015
Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans
Han J, Calvo CF, Kang TH, Baker KL, Park JH, Parras C, Levittas M, Birba U, Pibouin-Fragner L, Fragner P, Bilguvar K, Duman RS, Nurmi H, Alitalo K, Eichmann AC, Thomas JL. Vascular Endothelial Growth Factor Receptor 3 Controls Neural Stem Cell Activation in Mice and Humans. Cell Reports 2015, 10: 1158-1172. PMID: 25704818, PMCID: PMC4685253, DOI: 10.1016/j.celrep.2015.01.049.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationCell ProliferationCells, CulturedEmbryonic Stem CellsExtracellular Signal-Regulated MAP KinasesHippocampusHumansMiceMice, Inbred C57BLNeural Stem CellsNeurogenesisProto-Oncogene Proteins c-aktRecombinant ProteinsSignal TransductionVascular Endothelial Growth Factor CVascular Endothelial Growth Factor Receptor-3ConceptsHuman embryonic stem cellsNeural stem cellsVascular endothelial growth factor receptor 3Growth factor receptor 3NSC activationStem cellsProgenitor cellsAdult hippocampal neural stem cellsEmbryonic stem cellsNeural stem cell activationStem cell activationQuiescent neural stem cellsNeural progenitor cellsCell fateReceptor 3Specific regulatorsAdult mammalian hippocampusMolecular mechanismsCell cycleHippocampal neural stem cellsLigand VEGFERK pathwayConditional deletionNew neuronsVEGFR3
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