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Article

Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia.

Biochimica et biophysica acta - 1 Feb 2009

Holmlund Teresa, Farge Géraldine, Pande Vineet, Korhonen Jenny, Nilsson Lennart, Falkenberg Maria

Abstract excerpt

TWINKLE is a DNA helicase needed for mitochondrial DNA replication. In lower eukaryotes the protein also harbors a primase activity, which is lost from TWINKLE encoded by mammalian cells. Mutations in TWINKLE underlie autosomal dominant progressive external ophthalmoplegia (adPEO), a disorder ass...

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Share to Amino Acid Sequence
Share to DNA Helicases
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Replication

Share to Models, Molecular

Share to Ophthalmoplegia, Chronic Progressive External

Share to Protein Structure, Quaternary

Share to Recombinant Proteins

Source

Identifiers

PMID: 19084593
DOI: 10.1016/j.bbadis.2008.11.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19084593-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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