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Autism Spectrum Disorders (ASD) are characterized by heterogeneity both in their presentation and their genetic aetiology. In order to discover points of convergence common to different cases of ASD, attempts were made to identify the biological pathways genes associated with ASD contribute to. Many of these genes were found to play a role in neuronal and synaptic development and function. Among these genes are FMR1, CYFIP1 and NLGN3, all present at the synapse and reliably linked to ASD. In this review, we evaluate the evidence for the contribution of these genes to the same biological pathway responsible for the regulation of structural and physiological plasticity. Alterations in dendritic spine density and turnover, as well as long-term depression (LTD), were found in mouse models of mutations of all three genes. This overlap in the phenotypes associated with these mouse models likely arises from the molecular interaction between the protein products of FMR1, CYFIP1, and NLG3. A number of other proteins linked to ASD are also likely to participate in these pathways, resulting in further downstream effects. Overall, a synaptic pathway centered around FMR1, CYFIP1, and NLG3 is likely to contribute to the phenotypes associated with structural and physiological plasticity characteristic of ASD. Copyright © 2019 IBRO. Published by Elsevier Ltd. All rights reserved.


Monika Sledziowska, James Galloway, Stéphane J Baudouin. Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders. Neuroscience. 2020 Oct 01;445:31-41

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PMID: 31705895

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