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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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Autors principals: Sanchez-Martinez, Alvaro, Calleja, Manuel, Peralta, Susana, Matsushima, Yuichi, Hernandez-Sierra, Rosana, Whitworth, Alexander J., Kaguni, Laurie S., Garesse, Rafael
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
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Accés en línia: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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