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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 associated with multiple deletions in the mtDNA. Four different adPEO-causing mutations (W315L, K319T, R334Q, and P335L)...

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Share to Amino Acid Sequence
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Mitochondrial

Share to DNA Replication

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Share to Ophthalmoplegia, Chronic Progressive External

Share to Protein Structure, Quaternary

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Source

Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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