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Article

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Mitochondrion - 1 Jan 2011

Baruffini Enrico, Horvath Rita, Dallabona Cristina, Czermin Birgit, Lamantea Eleonora, Bindoff Laurence, Invernizzi Federica, Ferrero Iliana, Zeviani Massimo, Lodi Tiziana

Abstract excerpt

The yeast Saccharomyces cerevisiae was used to validate the pathogenic significance of eight human mutations in the gene encoding for the mitochondrial DNA polymerase gamma, namely G303R, S305R, R386H, R574W, P625R, D930N, K947R and P1073L, among which three are novel and four are of unclear pathological significance. Mitochondrial DNA extended and point mutability as well as dominance/recessivity of each...

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Source

Identifiers

PMID: 20883824
DOI: 10.1016/j.mito.2010.09.007

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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