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...

Descripció completa

Dades bibliogràfiques

Autors principals:	Philip H. Iffland, II, Marianna Baybis, Allan E. Barnes, Richard J. Leventer, Paul J. Lockhart, Peter B. Crino
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2018-06-01
Col·lecció:	Neurobiology of Disease
Matèries:	GATOR1 Focal cortical dysplasia mTORopathy Epilepsy Neural progenitor cells Brain development
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S0969996118300457
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!