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Dr. Gary Bassell

Rescuing the Fragile X Syndrome by Modulation of the Expression and Activity of PI3K Signaling Complexes

This project investigates how the translational apparatus is regulated by PI3K signaling and how its inhibition reverses FXS in mice and human cells.  The project has three specific aims.  Aim 1 is to test gene dosage and several inhibitors of p110b on rescue of protein synthesis and FXS phenotypes in FMRP KO mice and human iPSC-derived neurons from FXS patients.  This aim will integrate strongly with Klann and the EAB core.  Aim 2 is to use ribosome run-off and ribosome profiling to identify specific mRNAs that are rescued by p110b inhibition.  This aim will be integrated with Richter and the RB core.  Aim 3 will assess the involvement of FMRP and CPEB in dendritic protein synthesis.  This aim will integrate strongly with Richter’s lab.

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