Mechanistic investigation reveals how variant A624T alters ligation kinetics in DNA ligase I, suggesting implications for LIG1 syndrome.
ion and weakening the R641-D600 salt bridge. Collectively, our results indicate that A624T causes modest alterations to the LIG1 active site and ligation kinetics, providing mechanistic insight into how this variant contributes to LIG1 syndrome.
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Zalenski et al. (2026) studied this question.
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