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

Department of Medical Biochemistry and Cell Biology, University of Gothenburg, P.O. Box 440, SE405 30 Gothenburg, Sweden
Authors to whom correspondence should be addressed.
Genes 2020, 11(4), 408;
Received: 23 March 2020 / Revised: 6 April 2020 / Accepted: 7 April 2020 / Published: 9 April 2020
(This article belongs to the Special Issue DNA Helicases: Mechanisms, Biological Pathways, and Disease Relevance)
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 human disorders associated with mitochondrial dysfunction, neurodegeneration and premature ageing. In addition, a number of other helicases with a putative role in mitochondria have been identified. In this review, we discuss our current knowledge of TWINKLE structure and function and its role in diseases of mtDNA maintenance. We also briefly discuss other potential mitochondrial helicases and postulate on their role(s) in mitochondria. View Full-Text
Keywords: mitochondria; mtDNA; replication; PEO; TWINKLE mitochondria; mtDNA; replication; PEO; TWINKLE
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MDPI and ACS Style

Peter, B.; Falkenberg, M. TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease. Genes 2020, 11, 408.

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