Article

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Dysfunction in Patient-Derived Fibroblasts

2024-11-22

Abstract excerpt

<h4>Background: </h4> The nuclear encoded enzyme Polymerase gamma (Pol-γ) is crucial for the replication of the mitochondrial genome (mtDNA), which in turn is vital for mitochondria and hence nu-merous metabolic processes and energy production in eukaryotic cells. Variants in the POLG gene, which encodes the catalytic subunit of Pol-γ, can significantly impair Pol-γ enzyme function. Pol-γ-associated disorders are...

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Literature Corpus work: 5700ba19-4ce8-5480-95c2-fcd5352012e2
DOI: 10.20944/preprints202411.1729.v1

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