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Article

Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.

The Journal of biological chemistry - 1 Oct 2022

Al Khatib Iman, Deng Jingti, Symes Andrew, Kerr Marina, Zhang Hongliang, Huang Shar-Yin Naomi, Pommier Yves, Khan Aneal, Shutt Timothy E

Abstract excerpt

TOP1MT encodes a mitochondrial topoisomerase that is important for mtDNA regulation and is involved in mitochondrial replication, transcription, and translation. Two variants predicted to affect TOP1MT function (V1 - R198C and V2 - V338L) were identified by exome sequencing of a newborn with hypertrophic cardiomyopathy. As no pathogenic TOP1MT variants had been confirmed previously, we characterized these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Topoisomerases, Type I

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Identifiers

PMID: 36030054
DOI: 10.1016/j.jbc.2022.102420
PMCID: PMC9513266

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