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Article

Disease-associated H58Y mutation affects the nuclear dynamics of human DNA topoisomerase IIβ.

Scientific reports - 30 Nov 2022

Morotomi-Yano Keiko, Hiromoto Yukiko, Higaki Takumi, Yano Ken-Ichi

Abstract excerpt

DNA topoisomerase II (TOP2) is an enzyme that resolves DNA topological problems and plays critical roles in various nuclear processes. Recently, a heterozygous H58Y substitution in the ATPase domain of human TOP2B was identified from patients with autism spectrum disorder, but its biological significance remains unclear. In this study, we analyzed the nuclear dynamics of TOP2B with H58Y (TOP2B H58Y). Although...

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Identifiers

PMID: 36450898
DOI: 10.1038/s41598-022-24883-2
PMCID: PMC9712534

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