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

doi:10.1002/emmm.201303198

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

EMBO molecular medicine - 1 Feb 2014

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

Abstract excerpt

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 human mt aminoacyl-tRNA syntethases, namely leucyl-, valyl-, and isoleucyl-tRNA synthetase are able to improve both...

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PMID: 24413190
DOI: 10.1002/emmm.201303198
PMCID: PMC3927953

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