{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Giordano C"],"funding":["Telethon"],"pagination":["113"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4370040"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["6"],"pubmed_abstract":["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 def"],"journal":["Frontiers in genetics"],"pubmed_title":["The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof."],"pmcid":["PMC4370040"],"funding_grant_id":["GGP13097"],"pubmed_authors":["Giordano C","d'Amati G","Perli E","Morea V"],"additional_accession":[]},"is_claimable":false,"name":"The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof.","description":"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 def","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015","modification":"2025-04-04T08:19:42.249Z","creation":"2019-03-27T01:48:39Z"},"accession":"S-EPMC4370040","cross_references":{"pubmed":["25852750"],"doi":["10.3389/fgene.2015.00113"]}}