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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Nature Publishing Group
2017-10-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-017-00933-6 |
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doaj-ea6460e697d849ef87cfd70a3e73e7442021-05-11T07:27:53ZengNature Publishing GroupNature Communications2041-17232017-10-018111210.1038/s41467-017-00933-6Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disabilityM. R. F. Reijnders0M. Kousi1G. M. van Woerden2M. Klein3J. Bralten4G. M. S. Mancini5T. van Essen6M. Proietti-Onori7E. E. J. Smeets8M. van Gastel9A. P. A. Stegmann10S. J. C. Stevens11S. H. Lelieveld12C. Gilissen13R. Pfundt14P. L. Tan15T. Kleefstra16B. Franke17Y. Elgersma18N. Katsanis19H. G. Brunner20Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourCenter for Human Disease Modeling, Duke UniversityDepartment of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical CenterDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourDepartment of Clinical Genetics, Erasmus MC, Sophia Children’s HospitalDepartment of Genetics, University of Groningen, University Medical Center of GroningenDepartment of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical CenterDepartment of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical CenterDepartment of Medical Care, SWZ zorgDepartment of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical CenterDepartment of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical CenterDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical CenterDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourCenter for Human Disease Modeling, Duke UniversityDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourDepartment of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical CenterCenter for Human Disease Modeling, Duke UniversityDepartment of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and BehaviourThe 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.https://doi.org/10.1038/s41467-017-00933-6 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| 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 |
| spellingShingle |
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 Nature Communications |
| 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 Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2017-10-01 |
| 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. |
| url |
https://doi.org/10.1038/s41467-017-00933-6 |
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