| http://purl.uniprot.org/citations/25852750 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25852750 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in mitochondrial (mt) DNA determine important human diseases. The majority of the known pathogenic mutations are located in transfer RNA (tRNA) genes and are responsible for a wide range of currently untreatable disorders. Experimental evidence both in yeast and in human cells has shown that the detrimental effects of mt-tRNA point mutations can be attenuated by increasing the expression of the cognate mt-aminoacyl-tRNA synthetases (aaRSs). In addition, constitutive high levels of isoleucyl-tRNA syntethase have been shown to reduce the penetrance of a homoplasmic mutation in mt-tRNA(Ile) in a small kindred. More recently, we showed that the isolated carboxy-terminal domain of human mt-leucyl tRNA synthetase (LeuRS-Cterm) localizes to mitochondria and ameliorates the energetic defect in transmitochondrial cybrids carrying mutations either in the cognate mt-tRNA(Leu(UUR)) or in the non-cognate mt-tRNA(Ile) gene. Since the mt-LeuRS-Cterm does not possess catalytic activity, its rescuing ability is most likely mediated by a chaperon-like effect, consisting in the stabilization of the tRNA structure altered by the mutation. All together, these observations open potential therapeutic options for mt-tRNA mutations-associated diseases."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.org/dc/terms/identifier | "doi:10.3389/fgene.2015.00113"xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/author | "Morea V."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/author | "Giordano C."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/author | "d'Amati G."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/author | "Perli E."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/name | "Front Genet"xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/pages | "113"xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/title | "The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof."xsd:string |
| http://purl.uniprot.org/citations/25852750 | http://purl.uniprot.org/core/volume | "6"xsd:string |
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