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...

Täydet tiedot

Bibliografiset tiedot

Päätekijät:	Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Elsevier 2018-06-01
Sarja:	Neurobiology of Disease
Aiheet:	GATOR1 Focal cortical dysplasia mTORopathy Epilepsy Neural progenitor cells Brain development
Linkit:	http://www.sciencedirect.com/science/article/pii/S0969996118300457
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