Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

The mitochondrial Elongation Factor Tu (EF-Tu), encoded by the TUFM gene, is a highly conserved GTPase, which is part of the mitochondrial protein translation machinery. In its activated form it delivers the aminoacyl-tRNAs to the A site of the mitochondrial ribosome. We report here on a baby girl w...

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Detalles Bibliográficos
Autores principales: Di Nottia, Michela, Montanari, Arianna, Verrigni, Daniela, Oliva, Romina, Torraco, Alessandra, Fernandez-Vizarra, Erika, Diodato, Daria, Rizza, Teresa, Bianchi, Marzia, Catteruccia, Michela, Zeviani, Massimo, Dionisi-Vici, Carlo, Francisci, Silvia, Bertini, Enrico, Carrozzo, Rosalba
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335904/
https://www.ncbi.nlm.nih.gov/pubmed/28132884
http://dx.doi.org/10.1016/j.bbadis.2017.01.022

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