A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.

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State: Public
Version: Author's accepted manuscript
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_106603A8A2D5
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.
Journal
Neuron
Author(s)
Bagni C., Zukin R.S.
ISSN
1097-4199 (Electronic)
ISSN-L
0896-6273
Publication state
Published
Issued date
20/03/2019
Peer-reviewed
Oui
Volume
101
Number
6
Pages
1070-1088
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Altered synaptic structure and function is a major hallmark of fragile X syndrome (FXS), autism spectrum disorders (ASDs), and other intellectual disabilities (IDs), which are therefore classified as synaptopathies. FXS and ASDs, while clinically and genetically distinct, share significant comorbidity, suggesting that there may be a common molecular and/or cellular basis, presumably at the synapse. In this article, we review brain architecture and synaptic pathways that are dysregulated in FXS and ASDs, including spine architecture, signaling in synaptic plasticity, local protein synthesis, (m)RNA modifications, and degradation. mRNA repression is a powerful mechanism for the regulation of synaptic structure and efficacy. We infer that there is no single pathway that explains most of the etiology and discuss new findings and the implications for future work directed at improving our understanding of the pathogenesis of FXS and related ASDs and the design of therapeutic strategies to ameliorate these disorders.
Keywords
ASDs, ERK, FMRP, FXS, MNK, TSC, mGluRs, mRNA metabolism, mTOR, synaptopathies
Pubmed
Web of science
Funding(s)
Swiss National Science Foundation / Programmes / 51NF40-15877
Swiss National Science Foundation / Projects / 310030-182651
Create date
04/04/2019 10:18
Last modification date
16/07/2020 8:43
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