Authors
CA Hoeffer, E Sanchez, RJ Hagerman, Y Mu, DV Nguyen, H Wong, AM Whelan, RS Zukin, E Klann, F Tassone
Publication date
2012/4/1
Journal
Genes, Brain and Behavior
Volume
11
Issue
3
Pages
332-341
Publisher
Blackwell Publishing Ltd
Description
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism. The protein (FMRP) encoded by the fragile X mental retardation gene (FMR1), is an RNA‐binding protein linked to translational control. Recently, in the Fmr1 knockout mouse model of FXS, dysregulated translation initiation signaling was observed. To investigate whether an altered signaling was also a feature of subjects with FXS compared to typical developing controls, we isolated total RNA and translational control proteins from lymphocytes of subjects from both groups (38 FXS and 14 TD). Although we did not observe any difference in the expression level of messenger RNAs (mRNAs) for translational initiation control proteins isolated from participant with FXS, we found increased phosphorylation of the mammalian target of rapamycin (mTOR) substrate, p70 ribosomal subunit 6 kinase1 (S6K1) and of the mTOR …
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