Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regulating neuronal soma size and migration in vitro a...

Full description

Saved in:
Bibliographic Details
Main Authors: M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner
Format: article
Language:EN
Published: Nature Portfolio 2017
Subjects:
Science
Q
Online Access:https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744

Similar Items