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Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.

Cell death & disease - 20 Apr 2024

Brañas Casas Raquel, Zuppardo Alessandro, Risato Giovanni, Dinarello Alberto, Celeghin Rudy, Fontana Camilla, Grelloni Eleonora, Gilea Alexandru Ionut, Viscomi Carlo, Rasola Andrea, Dalla Valle Luisa, Lodi Tiziana, Baruffini Enrico, Facchinello Nicola, Argenton Francesco, Tiso Natascia

Abstract excerpt

The human mitochondrial DNA polymerase gamma is a holoenzyme, involved in mitochondrial DNA (mtDNA) replication and maintenance, composed of a catalytic subunit (POLG) and a dimeric accessory subunit (POLG2) conferring processivity. Mutations in POLG or POLG2 cause POLG-related diseases in humans, leading to a subset of Mendelian-inherited mitochondrial disorders characterized by mtDNA depletion (MDD) or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38643274
DOI: 10.1038/s41419-024-06622-9
PMCID: PMC11032366

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