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
2003
Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia.
Kothapalli R, Bailey R, Kusmartseva I, Mane S, Epling-Burnette P, Loughran T. Constitutive expression of cytotoxic proteases and down-regulation of protease inhibitors in LGL leukemia. International Journal Of Oncology 2003, 22: 33-9. PMID: 12469182, DOI: 10.3892/ijo.22.1.33.Peer-Reviewed Original ResearchConceptsRNase protection assaysGene expressionPeripheral blood mononuclear cellsGroup of genesDifferential gene expressionNormal peripheral blood mononuclear cellsBlood mononuclear cellsNorthern blot analysisLGL leukemiaSmall subunitCaspase-8Protein perforinConstitutive expressionMicroarray technologyMononuclear cellsCytotoxic proteasesGenesProtection assaysCysteine proteinasesLarge granular lymphocyte leukemiaBlot analysisLGL leukemia patientsGranular lymphocyte leukemiaAlpha-1 antitrypsinExpression