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Author Notes:

Correspondence: gbassel@emory.edu (G.J.B.), swarren@emory.edu (S.T.W.)

The authors thank Christina Gross and Ravi Muddashetty for helpful comments, and Sharon Swanger for preparation of the model (Figure 4).

S.T.W. discloses that he is the chair of the scientific advisory committee of Seaside Therapeutics.


Research Funding:

Supported in part by HD020521, MH080129, HD24064, and a Simons Foundation award to S.T.W. and NS051127 and a FRAXA award to G.J.B.

Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function


Journal Title:



Volume 60, Number 2


, Pages 201-214

Type of Work:

Article | Post-print: After Peer Review


Fragile X syndrome is the most common inherited form of cognitive deficiency in humans and perhaps the best-understood single cause of autism. A trinucleotide repeat expansion, inactivating the X-linked FMR1 gene, leads to the absence of the fragile X mental retardation protein. FMRP is a selective RNA-binding protein that regulates the local translation of a subset of mRNAs at synapses in response to activation of Gp1 metabotropic glutamate receptors (mGluRs) and possibly other receptors. In the absence of FMRP, excess and dysregulated mRNA translation leads to altered synaptic function and loss of protein synthesis-dependent plasticity. Recent evidence indicates the role of FMRP in regulated mRNA transport in dendrites. New studies also suggest a possible local function of FMRP in axons that may be important for guidance, synaptic development, and formation of neural circuits. The understanding of FMRP function at synapses has led to rationale therapeutic approaches.

Copyright information:

©2008 Elsevier Inc.

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