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...

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Auteurs principaux: 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
Langue:EN
Publié: Nature Portfolio 2017
Sujets:
Science
Q
Accès en ligne:https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
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