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Article

Human mitochondrial DNA replication machinery and disease.

Current opinion in genetics & development - 1 Jun 2016

Young Matthew J, Copeland William C

Abstract excerpt

The human mitochondrial genome is replicated by DNA polymerase γ in concert with key components of the mitochondrial DNA (mtDNA) replication machinery. Defects in mtDNA replication or nucleotide metabolism cause deletions, point mutations, or depletion of mtDNA. The resulting loss of cellular respiration ultimately induces mitochondrial genetic diseases, including mtDNA depletion syndromes (MDS) such as Alpers or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27065468
DOI: 10.1016/j.gde.2016.03.005
PMCID: PMC5055853

Genes

DNA2
MGME1
POLG
POLG2
RNASEH1

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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