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Article

The RNA exosome complex degrades expanded hexanucleotide repeat RNA in C9orf72 FTLD/ALS

24 Aug 2020

Abstract excerpt

Nucleotide repeat expansions in the C9orf72 gene cause frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Transcribed repeat RNA accumulates within RNA foci and is also translated into toxic dipeptide repeat proteins (DPR). The mechanism of repeat RNA accumulation, however, remains unclear. The RNA exosome complex is a multimeric ribonuclease involved in degradation of defective...

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PMID: 32830871
DOI: 10.15252/embj.2019102700

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