Article
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Human molecular genetics - 1 Mar 2016
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
Abstract excerpt
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 the m.3243A>G mutation in mt-tRNA(Leu(UUR)) or with mutations in the mt-tRNA(Ile), both of which are aminoacylated by...
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