Figure 5.

Schematic Representation of the Molecular Pathway Aberrant in FXS

In control (WT) neurons, FMRP is important for the regulation of the level of the mature hsa-mir-382. hsa-mir-382 in turn affects the regulation of REST during the maturation of the neurons, thus allowing the expression of the axon guidance genes. In FXS-derived neurons, FMRP is not produced; hsa-mir-382 levels are very low and insufficient for the downregulation of REST. REST levels do not decrease, resulting in the suppression of the axon guidance genes.