DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons

Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). Brain specimens from these individuals reveal abnormal cortical lamination, altered cell morphology, and hyperphosphorylation of ribosom...

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Bibliographic Details
Main Authors: Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Format: Article
Language:English
Published: Elsevier 2018-06-01
Series:Neurobiology of Disease
Subjects:
GATOR1
Focal cortical dysplasia
mTORopathy
Epilepsy
Neural progenitor cells
Brain development
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118300457

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http://www.sciencedirect.com/science/article/pii/S0969996118300457

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