Article

SCAN1 mutant TDP1 blocks the repair of DSB induced by TOP1 activity during gene transcription and promotes genome reorganisations and cell death in quiescent cells

2024-05-31

Abstract excerpt

DNA single-strand breaks (SSBs) are the most common type of DNA damage in quiescent cells, and defects in their repair can lead to hereditary neurological syndromes. A potential endogenous source of SSBs with pathogenic potential is the abortive activity of DNA topoisomerase 1 (TOP1) during transcription. Spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1), is caused by the homozygous mutation H493R in th...

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Literature Corpus work: d6130506-06f6-596a-a153-92316c698bf9
DOI: 10.1101/2024.05.27.596066

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