The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Mitochondrial (mt) diseases are multisystem disorders due to mutations in nuclear or mtDNA genes. Among the latter, more than 50% are located in transfer RNA (tRNA) genes and are responsible for a wide range of syndromes, for which no effective treatment is available at present. We show that three h...

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Autores principales: Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2014
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3927953/
https://ncbi.nlm.nih.gov/pubmed/24413190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201303198
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