Article

Model systems informing mechanisms and drug discovery: a review of POLG-related disease models

2025-04-04

Abstract excerpt

Introduction Pathogenic variants in the gene encoding the catalytic subunit of DNA polymerase gamma ( POLG ), comprise an important single-gene cause of inherited mitochondrial disorders. Clinical manifestations are now recognised as an array of overlapping clinical features rather than discrete syndromes as originally conceptualised. Animal and cellular models have been used to address numerous scientific questi...

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Literature Corpus work: ad987358-9d74-561b-8e5d-a451d401d413
DOI: 10.12688/wellcomeopenres.18637.2

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