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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Autores principales: 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
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Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
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spelling oai:doaj.org-article:ea6460e697d849ef87cfd70a3e73e7442021-12-02T14:42:38ZVariation in a range of mTOR-related genes associates with intracranial volume and intellectual disability10.1038/s41467-017-00933-62041-1723https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e7442017-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-00933-6https://doaj.org/toc/2041-1723The 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 and in vivo.M. R. F. ReijndersM. KousiG. M. van WoerdenM. KleinJ. BraltenG. M. S. ManciniT. van EssenM. Proietti-OnoriE. E. J. SmeetsM. van GastelA. P. A. StegmannS. J. C. StevensS. H. LelieveldC. GilissenR. PfundtP. L. TanT. KleefstraB. FrankeY. ElgersmaN. KatsanisH. G. BrunnerNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
description 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 and in vivo.
format article
author 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
author_facet 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
author_sort M. R. F. Reijnders
title Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
title_short Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
title_full Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
title_fullStr Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
title_full_unstemmed Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability
title_sort variation in a range of mtor-related genes associates with intracranial volume and intellectual disability
publisher Nature Portfolio
publishDate 2017
url https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744
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