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The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes

13 Dec 2023

Abstract excerpt

Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases that exist on a clinico-pathogenetic spectrum, designated ALS/FTD. The most common genetic cause of ALS/FTD is expansion of the intronic hexanucleotide repeat (GGGGCC) n in C9orf72 . Here, we investigate the formation of nucleic acid secondary structures in these expansion repeats, and their role in...

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PMID: 38092738
DOI: 10.1038/s41467-023-43872-1

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