serval:BIB_106603A8A2D5
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders.
10.1016/j.neuron.2019.02.041
000461901500011
30897358
Bagni
C.
author
Zukin
R.S.
author
article
review
2019-03-20
Neuron
1097-4199
0896-6273
journal
101
6
1070-1088
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.
ASDs
ERK
FMRP
FXS
MNK
TSC
mGluRs
mRNA metabolism
mTOR
synaptopathies
eng
60_published
SNF/Programs/51NF40-15877
SNF/Projects/310030-182651
peer-reviewed
Publication types: Journal Article ; Review
Publication Status: ppublish
University of Lausanne
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