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HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS

27 Jul 2022

Abstract excerpt

A 'GGGGCC' repeat expansion in the first intron of the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The exact mechanism resulting in these neurodegenerative diseases remains elusive, but C9 repeat RNA toxicity has been implicated as a gain-of-function mechanism. Our aim was to use a zebrafish model for C9orf72 RNA toxicity to identify...

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PMID: 35895140
DOI: 10.1007/s00401-022-02471-y

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