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Article

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

Journal of molecular biology - 28 Mar 2008

Korhonen Jenny A, Pande Vineet, Holmlund Teresa, Farge Géraldine, Pham Xuan Hoi, Nilsson Lennart, Falkenberg Maria

Abstract excerpt

TWINKLE is the helicase at the mitochondrial DNA (mtDNA) replication fork in mammalian cells. Mutations in the PEO1 gene, which encodes TWINKLE, cause autosomal dominant progressive external ophthalmoplegia (AdPEO), a disorder associated with deletions in mtDNA. Here, we characterized seven different AdPEO-causing mutations in the linker region of TWINKLE and we identified distinct molecular phenotypes. For some...

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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 Ophthalmoplegia, Chronic Progressive External

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Source

Identifiers

PMID: 18279890
DOI: 10.1016/j.jmb.2008.01.035

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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