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Article

Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.

The Journal of biological chemistry - 1 Aug 2022

Rahman Md Mostafijur, Young Carolyn K J, Goffart Steffi, Pohjoismäki Jaakko L O, Young Matthew J

Abstract excerpt

In human cells, ATP is generated using oxidative phosphorylation machinery, which is inoperable without proteins encoded by mitochondrial DNA (mtDNA). The DNA polymerase gamma (Polγ) repairs and replicates the multicopy mtDNA genome in concert with additional factors. The Polγ catalytic subunit is encoded by the POLG gene, and mutations in this gene cause mtDNA genome instability and disease. Barriers to studying...

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Share to DNA-Directed DNA Polymerase
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35760101
DOI: 10.1016/j.jbc.2022.102196
PMCID: PMC9307957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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