NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility
Philip H. Iffland, Mariah E. Everett, Katherine Cobb-Pitstick, Lauren E. Bowser, Allan E. Barnes, Janice K. Babus, Andrea J. Romanowski, Marianna Baybis, Soad Elziny, Erik G. Puffenberger, Claudia G. Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J. Carson, Peter B. Crino
The paper investigates NPRL3 variants' effects on mTOR signaling, cortical development, and epilepsy by using CRISPR/Cas9 knockout in cell lines and mice, showing mTOR hyperactivation and cortical dyslamination.
Brain · Feb 5, 2022Peer-reviewedNeuroscience