Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Mutations in mitochondrial (mt) genes coding for mt-tRNAs are responsible for a range of syndromes, for which no effective treatment is available. We recently showed that the carboxy-terminal domain (Cterm) of human mt-leucyl tRNA synthetase rescues the pathologic phenotype associated either with th...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Perli, Elena, Fiorillo, Annarita, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Grazioli, Paola, Campese, Antonio F., Di Micco, Patrizio, Tuppen, Helen A., Genovese, Ilaria, Poser, Elena, Preziuso, Carmela, Taylor, Robert W., Morea, Veronica, Colotti, Gianni, d'Amati, Giulia
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4754043/
https://ncbi.nlm.nih.gov/pubmed/26721932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv619
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