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, 1-10. PMID: 39743596, 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
2011
Cyclin-Dependent Kinase 5 Regulates PSD-95 Ubiquitination in Neurons
Bianchetta MJ, Lam TT, Jones SN, Morabito MA. Cyclin-Dependent Kinase 5 Regulates PSD-95 Ubiquitination in Neurons. Journal Of Neuroscience 2011, 31: 12029-12035. PMID: 21849563, PMCID: PMC3190401, DOI: 10.1523/jneurosci.2388-11.2011.Peer-Reviewed Original ResearchConceptsAMPA receptor endocytosisClathrin adaptor protein complex AP-2Receptor endocytosisAP-2Protein complex AP-2PSD-95Cdk5 activityMajor postsynaptic scaffolding proteinCyclin-dependent kinase 5Interaction of MDM2Β-adaptinNonproteolytic functionsUbiquitin E3Scaffolding proteinUbiquitinationMolecular mechanismsActivator p35Kinase 5Postsynaptic scaffolding proteinGenetic reductionPSD-95 protein levelsNMDA receptor stimulationProtein levelsEndocytosisNeurodegenerative diseases