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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2014
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Research Article
Accesso online: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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