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.

中文翻译：

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重复相关的非ATG翻译：分子机制及其对神经系统疾病的贡献。

涉及三核苷酸，四核苷酸，五核苷酸或六核苷酸重复序列扩展的微卫星突变会引起40多种不同的神经系统疾病。尽管从传统上讲，重复序列在开放阅读框之内或之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，双向转录和重复发现的疾病机理关联的非ATG（RAN）已模糊了这些区别。在这里，我们回顾了有关疾病中RAN蛋白的已知信息，它们产生的机理以及它们提供的新颖治疗机会。