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Article

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Biochimica et biophysica acta - 1 Mar 2011

Stewart Joanna D, Schoeler Susanne, Sitarz Kamil S, Horvath Rita, Hallmann Kerstin, Pyle Angela, Yu-Wai-Man Patrick, Taylor Robert W, Samuels David C, Kunz Wolfram S, Chinnery Patrick F

Abstract excerpt

Disorders of mitochondrial DNA (mtDNA) maintenance have emerged as an important cause of human genetic disease, but demonstrating the functional consequences of de novo mutations remains a major challenge. We studied the rate of depletion and repopulation of mtDNA in human fibroblasts exposed to ethidium bromide in patients with heterozygous POLG mutations, POLG2 and TK2 mutations. Ethidium bromide induced mtDNA...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21138766
DOI: 10.1016/j.bbadis.2010.11.012

Genes

POLG
POLG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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