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Article

Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.

Methods (San Diego, Calif.) - 1 Aug 2010

Kasiviswanathan Rajesh, Longley Matthew J, Young Matthew J, Copeland William C

Abstract excerpt

More than 150 different point mutations in POLG, the gene encoding the human mitochondrial DNA polymerase gamma (pol gamma), cause a broad spectrum of childhood and adult onset diseases like Alpers syndrome, ataxia-neuropathy syndrome and progressive external ophthalmoplegia. These disease mutations can affect the pol gamma enzyme's properties in numerous ways, thus potentially influencing the severity of the...

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Identifiers

PMID: 20176107
DOI: 10.1016/j.ymeth.2010.02.015
PMCID: PMC2901396

Genes

POLG

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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