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Modeling Pathogenic Mutations of Human Twinkle in Drosophila Suggests an Apoptosis Role in Response to Mitochondrial Defects

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....

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書誌詳細
主要な著者: Sanchez-Martinez, Alvaro, Calleja, Manuel, Peralta, Susana, Matsushima, Yuichi, Hernandez-Sierra, Rosana, Whitworth, Alexander J., Kaguni, Laurie S., Garesse, Rafael
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3429445/
https://ncbi.nlm.nih.gov/pubmed/22952820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0043954
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