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Article

Repeat-associated non-AUG translation in neuromuscular diseases: mechanisms and therapeutic insights

7 Feb 2023

Abstract excerpt

Expanded short tandem repeats cause more than 50 monogenic diseases, which are mostly neuromuscular diseases. In the non-coding repeat expansion diseases, in which the expanded repeat sequence is located outside of the coding region, the toxicity of the transcribed repeat-containing RNAs had been the focus of research. However, recent studies have revealed that repeat RNAs can be translated into repeat...

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PMID: 36748359
DOI: 10.1093/jb/mvad012

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