Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.
Yuyoung Joo,David R. Benavides +1 more
TLDR
A review of recent studies about local translation and mRNA processing of synaptic proteins and how perturbations of these processes may be related to the pathophysiology of ASD can be found in this paper.Abstract:
Autism spectrum disorder (ASD) is a heritable neurodevelopmental condition associated with impairments in social interaction, communication and repetitive behaviors. While the underlying disease mechanisms remain to be fully elucidated, dysfunction of neuronal plasticity and local translation control have emerged as key points of interest. Translation of mRNAs for critical synaptic proteins are negatively regulated by Fragile X mental retardation protein (FMRP), which is lost in the most common single-gene disorder associated with ASD. Numerous studies have shown that mRNA transport, RNA metabolism, and translation of synaptic proteins are important for neuronal health, synaptic plasticity, and learning and memory. Accordingly, dysfunction of these mechanisms may contribute to the abnormal brain function observed in individuals with autism spectrum disorder (ASD). In this review, we summarize recent studies about local translation and mRNA processing of synaptic proteins and discuss how perturbations of these processes may be related to the pathophysiology of ASD.read more
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SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice
Anne-Kathrin Lutz,Andrea Pérez Arévalo,Valentin Ioannidis,Nadine Stirmlinger,Maria Demestre,Richard Delorme,Thomas Bourgeron,Tobias M. Boeckers +7 more
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Postsynaptic autism spectrum disorder genes and synaptic dysfunction
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Postsynaptic autism spectrum disorder genes and synaptic dysfunction.
TL;DR: In this paper, the authors provide 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.
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Synaptic Alterations in a Transgenic Model of Tuberous Sclerosis Complex: Relevance to Autism Spectrum Disorders
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Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders
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