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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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Detalles Bibliográficos
Autores principales: Sanchez-Martinez, Alvaro, Calleja, Manuel, Peralta, Susana, Matsushima, Yuichi, Hernandez-Sierra, Rosana, Whitworth, Alexander J., Kaguni, Laurie S., Garesse, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3429445/
https://www.ncbi.nlm.nih.gov/pubmed/22952820
http://dx.doi.org/10.1371/journal.pone.0043954