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TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Human molecular genetics - 15 May 2013

Milenkovic Dusanka, Matic Stanka, Kühl Inge, Ruzzenente Benedetta, Freyer Christoph, Jemt Elisabeth, Park Chan Bae, Falkenberg Maria, Larsson Nils-Göran

Abstract excerpt

Replication of the mammalian mitochondrial DNA (mtDNA) is dependent on the minimal replisome, consisting of the heterotrimeric mtDNA polymerase (POLG), the hexameric DNA helicase TWINKLE and the tetrameric single-stranded DNA-binding protein (mtSSB). TWINKLE has been shown to unwind DNA during the replication process and many disease-causing mutations have been mapped to its gene. Patients carrying Twinkle...

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Share to DNA Helicases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Diseases, Inborn

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Source

Open in PubMed Open full text

Identifiers

PMID: 23393161
DOI: 10.1093/hmg/ddt051
PMCID: PMC3633371

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.PMID 23393161Read ↗

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