重复相关的非atg翻译:神经系统疾病的分子机制和贡献。

IF 12.1 1区医学 Q1 NEUROSCIENCES

Annual review of neuroscience Pub Date : 2019-07-08 Epub Date: 2019-03-25 DOI:10.1146/annurev-neuro-070918-050405

Lien Nguyen, John Douglas Cleary, Laura P W Ranum

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引用次数: 50

摘要

涉及三、四、五或六核苷酸重复扩增的微卫星突变可导致40多种不同的神经系统疾病。尽管传统上，重复序列在开放阅读框内或外的位置已被用于研究涉及蛋白质功能丧失、蛋白质功能获得或RNA功能获得的疾病机制，但双向转录和重复序列相关的非atg (RAN)的发现模糊了这些区别。在这里，我们回顾了关于RAN蛋白在疾病中的已知情况，它们产生的机制，以及它们提供的新的治疗机会。

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Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease.

Microsatellite mutations involving the expansion of tri-, tetra-, penta-, or hexanucleotide repeats cause more than 40 different neurological disorders. Although, traditionally, the position of the repeat within or outside of an open reading frame has been used to focus research on disease mechanisms involving protein loss of function, protein gain of function, or RNA gain of function, the discoveries of bidirectional transcription and repeat-associated non-ATG (RAN) have blurred these distinctions. Here we review what is known about RAN proteins in disease, the mechanisms by which they are produced, and the novel therapeutic opportunities they provide.

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来源期刊

Annual review of neuroscience 医学-神经科学

CiteScore

25.30

自引率

0.70%

发文量

期刊介绍： The Annual Review of Neuroscience is a well-established and comprehensive journal in the field of neuroscience, with a rich history and a commitment to open access and scholarly communication. The journal has been in publication since 1978, providing a long-standing source of authoritative reviews in neuroscience. The Annual Review of Neuroscience encompasses a wide range of topics within neuroscience, including but not limited to: Molecular and cellular neuroscience, Neurogenetics, Developmental neuroscience, Neural plasticity and repair, Systems neuroscience, Cognitive neuroscience, Behavioral neuroscience, Neurobiology of disease. Occasionally, the journal also features reviews on the history of neuroscience and ethical considerations within the field.