结构破坏：蛋白质平衡失调对神经发育障碍的贡献

IF 4.8 2区医学 Q1 NEUROSCIENCES

Current Opinion in Neurobiology Pub Date : 2024-11-28 DOI:10.1016/j.conb.2024.102934

Kellen D. Winden, Juan F. Ruiz, Mustafa Sahin

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引用次数: 0

摘要

神经发育障碍（ndd）如癫痫和自闭症谱系障碍的遗传原因正在迅速被发现。导致各种ndd的遗传风险因素分为许多类别，虽然一些基因（如参与突触传递的基因）是可以预料的，但还有其他几类基因与这些疾病的关系并不直观。其中一组基因参与蛋白质合成和降解，这些相反途径之间的平衡被称为蛋白质平衡。在这里，我们回顾这些途径，相关神经系统疾病的遗传学，以及一些潜在的疾病机制。提高对这些遗传疾病的理解将有助于了解这些疾病的发病机制，并暗示新的治疗策略。

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Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

Genetic causes of neurodevelopmental disorders (NDDs) such as epilepsy and autism spectrum disorder are rapidly being uncovered. The genetic risk factors that are responsible for various NDDs fall into many categories, and while some genes such as those involved in synaptic transmission are expected, there are several other classes of genes whose involvement in these disorders is not intuitive. One such group of genes is involved in protein synthesis and degradation, and the balance between these opposing pathways is termed proteostasis. Here, we review these pathways, the genetics of the related neurological disorders, and some potential disease mechanisms. Improved understanding of this collection of genetic disorders will be informative for the pathogenesis of these disorders and imply novel therapeutic strategies.

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来源期刊

Current Opinion in Neurobiology 医学-神经科学

CiteScore

11.10

自引率

1.80%

发文量

130

审稿时长

4-8 weeks

期刊介绍： Current Opinion in Neurobiology publishes short annotated reviews by leading experts on recent developments in the field of neurobiology. These experts write short reviews describing recent discoveries in this field (in the past 2-5 years), as well as highlighting select individual papers of particular significance. The journal is thus an important resource allowing researchers and educators to quickly gain an overview and rich understanding of complex and current issues in the field of Neurobiology. The journal takes a unique and valuable approach in focusing each special issue around a topic of scientific and/or societal interest, and then bringing together leading international experts studying that topic, embracing diverse methodologies and perspectives. Journal Content: The journal consists of 6 issues per year, covering 8 recurring topics every other year in the following categories: -Neurobiology of Disease- Neurobiology of Behavior- Cellular Neuroscience- Systems Neuroscience- Developmental Neuroscience- Neurobiology of Learning and Plasticity- Molecular Neuroscience- Computational Neuroscience