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The Ubiquitin System: a Regulatory Hub for Intellectual Disability and Autism Spectrum Disorder.
Molecular Neurobiology ( IF 4.6 ) Pub Date : 2020-01-23 , DOI: 10.1007/s12035-020-01881-x
Maria A Kasherman 1, 2 , Susitha Premarathne 1 , Thomas H J Burne 3, 4 , Stephen A Wood 1 , Michael Piper 2, 3
Affiliation  

Intellectual disability (ID) and autism spectrum disorder (ASD) are two of the most common neurodevelopmental disorders. Both disorders are extremely heterogenous, and only ~ 40% of reported cases have so far been attributed to genetic mutations. Of the many cellular processes that are affected, the ubiquitin system (UbS) is of particular relevance in that it can rapidly regulate multiple signaling cascades simultaneously. The UbS is a post-translational modification process that revolves around the covalent attachment of a ubiquitin moiety to a substrate, thereby influencing different elements of protein biology, including trafficking, signal transduction, and degradation. Importantly, the UbS has been implicated in regulating multiple pathophysiological pathways related to ASD and ID. This review will discuss how the UbS acts as major signaling hub in the pathogenesis of ASD and ID, raising the prospect of treating broader patient cohorts by targeting the UbS as a common point of convergence of various mutations.

中文翻译:

泛素系统:智力障碍和自闭症谱系障碍的监管中心。

智力障碍 (ID) 和自闭症谱系障碍 (ASD) 是两种最常见的神经发育障碍。这两种疾病都具有极强的异质性,迄今为止只有约 40% 的报告病例归因于基因突变。在受影响的许多细胞过程中,泛素系统 (UbS) 具有特别重要的意义,因为它可以同时快速调节多个信号级联。UbS 是一种翻译后修饰过程,它围绕泛素部分与底物的共价连接,从而影响蛋白质生物学的不同元素,包括运输、信号转导和降解。重要的是,UbS 参与调节与 ASD 和 ID 相关的多种病理生理途径。
更新日期:2020-04-22
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