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Neurodevelopmental Disorders: From Genetics to Functional Pathways
Trends in Neurosciences ( IF 15.9 ) Pub Date : 2020-08-01 , DOI: 10.1016/j.tins.2020.05.004
Ilaria Parenti 1 , Luis G Rabaneda 1 , Hanna Schoen 1 , Gaia Novarino 1
Affiliation  

Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function and are characterized by wide genetic and clinical variability. In this review, we discuss the multiple factors that influence the clinical presentation of NDDs, with particular attention to gene vulnerability, mutational load, and the two-hit model. Despite the complex architecture of mutational events associated with NDDs, the various proteins involved appear to converge on common pathways, such as synaptic plasticity/function, chromatin remodelers and the mammalian target of rapamycin (mTOR) pathway. A thorough understanding of the mechanisms behind these pathways will hopefully lead to the identification of candidates that could be targeted for treatment approaches.

中文翻译:

神经发育障碍:从遗传到功能途径

神经发育障碍 (NDD) 是一类影响大脑发育和功能的疾病,其特征在于广泛的遗传和临床变异性。在这篇综述中,我们讨论了影响 NDD 临床表现的多种因素,特别关注基因脆弱性、突变负荷和两次打击模型。尽管与 NDD 相关的突变事件结构复杂,但所涉及的各种蛋白质似乎都集中在共同的途径上,例如突触可塑性/功能、染色质重塑和哺乳动物雷帕霉素靶点 (mTOR) 途径。对这些途径背后的机制的透彻理解有望导致确定可以作为治疗方法靶向的候选者。
更新日期:2020-08-01
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