Article

<i>C9orf72</i> expansion creates the unstable folate-sensitive fragile site FRA9A

2024-10-29

Abstract excerpt

The hyper-unstable Chr9p21 locus, harbouring the interferon gene cluster, oncogenes and C9orf72, is linked to multiple diseases. C9orf72 (GGGGCC)n expansions ( C9orf72 Exp) are associated with incompletely penetrant amyotrophic lateral sclerosis, frontotemporal dementia and autoimmune disorders. C9orf72 Exp patients display hyperactive cGAS-STING-linked interferon immune and DNA damage responses, but the sourc...

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Literature Corpus work: f321a4e9-3b98-54b5-9d12-1cf8e52031c8
DOI: 10.1101/2024.10.26.620312

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