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Article

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.

Genes - 9 Apr 2020

Peter Bradley, Falkenberg Maria

Abstract excerpt

Mammalian mitochondria contain a circular genome (mtDNA) which encodes subunits of the oxidative phosphorylation machinery. The replication and maintenance of mtDNA is carried out by a set of nuclear-encoded factors-of which, helicases form an important group. The TWINKLE helicase is the main helicase in mitochondria and is the only helicase required for mtDNA replication. Mutations in TWINKLE cause a number of...

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Identifiers

PMID: 32283748
DOI: 10.3390/genes11040408
PMCID: PMC7231222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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