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Article

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects.

PloS one - 1 Jan 2012

Sanchez-Martinez Alvaro, Calleja Manuel, Peralta Susana, Matsushima Yuichi, Hernandez-Sierra Rosana, Whitworth Alexander J, Kaguni Laurie S, Garesse Rafael

Abstract excerpt

The human gene C10orf2 encodes the mitochondrial replicative DNA helicase Twinkle, mutations of which are responsible for a significant fraction of cases of autosomal dominant progressive external ophthalmoplegia (adPEO), a human mitochondrial disease caused by defects in intergenomic communication. We report the analysis of orthologous mutations in the Drosophila melanogaster mitochondrial DNA (mtDNA) helicase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22952820
DOI: 10.1371/journal.pone.0043954
PMCID: PMC3429445

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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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