This review provides an overview of the synaptic dysfunction of neuronal circuits and the ensuing behavioral alterations caused by mutations in autism spectrum disorder (ASD)-linked genes directly or indirectly affecting the postsynaptic neuronal compartment. There are plenty of ASD risk genes, that may be broadly grouped into those involved in gene expression regulation (epigenetic regulation and transcription) and genes regulating synaptic activity (neural communication and neurotransmission). Notably, the effects mediated by ASD-associated genes can vary extensively depending on the developmental time and/or subcellular site of expression. Therefore, in order to gain a better understanding of the mechanisms of disruptions in postsynaptic function, an effort to better model ASD in experimental animals is required to improve standardization and increase reproducibility within and among studies. Such an effort holds promise to provide deeper insight into the development of these disorders and to improve the translational value of preclinical studies.

Postsynaptic autism spectrum disorder genes and synaptic dysfunction / Bonsi, P.; De Jaco, A.; Fasano, L.; Gubellini, P.. - In: NEUROBIOLOGY OF DISEASE. - ISSN 0969-9961. - 162:(2022). [10.1016/j.nbd.2021.105564]

Postsynaptic autism spectrum disorder genes and synaptic dysfunction

De Jaco A.;
2022

Abstract

This review provides an overview of the synaptic dysfunction of neuronal circuits and the ensuing behavioral alterations caused by mutations in autism spectrum disorder (ASD)-linked genes directly or indirectly affecting the postsynaptic neuronal compartment. There are plenty of ASD risk genes, that may be broadly grouped into those involved in gene expression regulation (epigenetic regulation and transcription) and genes regulating synaptic activity (neural communication and neurotransmission). Notably, the effects mediated by ASD-associated genes can vary extensively depending on the developmental time and/or subcellular site of expression. Therefore, in order to gain a better understanding of the mechanisms of disruptions in postsynaptic function, an effort to better model ASD in experimental animals is required to improve standardization and increase reproducibility within and among studies. Such an effort holds promise to provide deeper insight into the development of these disorders and to improve the translational value of preclinical studies.
2022
Animal models of ASD; ASD gene expression regulation; Mitochondrial dysfunction
01 Pubblicazione su rivista::01g Articolo di rassegna (Review)
Postsynaptic autism spectrum disorder genes and synaptic dysfunction / Bonsi, P.; De Jaco, A.; Fasano, L.; Gubellini, P.. - In: NEUROBIOLOGY OF DISEASE. - ISSN 0969-9961. - 162:(2022). [10.1016/j.nbd.2021.105564]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1673939
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