Publication Date:
2017-10-20
Description:
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability Nature Communications, Published online: 20 October 2017; doi:10.1038/s41467-017-00933-6 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.
Electronic ISSN:
2041-1723
Topics:
Biology
,
Chemistry and Pharmacology
,
Natural Sciences in General
,
Physics
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