Ontology highlight
ABSTRACT:
SUBMITTER: Sethna F
PROVIDER: S-EPMC5321753 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Sethna Ferzin F Feng Wei W Ding Qi Q Robison Alfred J AJ Feng Yue Y Wang Hongbing H
Nature communications 20170220
Fragile X syndrome (FXS), caused by the loss of functional FMRP, is a leading cause of autism. Neurons lacking FMRP show aberrant mRNA translation and intracellular signalling. Here, we identify that, in Fmr1 knockout neurons, type 1 adenylyl cyclase (Adcy1) mRNA translation is enhanced, leading to excessive production of ADCY1 protein and insensitivity to neuronal stimulation. Genetic reduction of Adcy1 normalizes the aberrant ERK1/2- and PI3K-mediated signalling, attenuates excessive protein s ...[more]