| http://purl.uniprot.org/citations/22608499 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22608499 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22608499 | http://www.w3.org/2000/01/rdf-schema#comment | "Dysfunction of mitochondrial respiration is an increasingly recognized cause of isolated hypertrophic cardiomyopathy. To gain insight into the genetic origin of this condition, we used next-generation exome sequencing to identify mutations in MTO1, which encodes mitochondrial translation optimization 1. Two affected siblings carried a maternal c.1858dup (p.Arg620Lysfs(∗)8) frameshift and a paternal c.1282G>A (p.Ala428Thr) missense mutation. A third unrelated individual was homozygous for the latter change. In both humans and yeast, MTO1 increases the accuracy and efficiency of mtDNA translation by catalyzing the 5-carboxymethylaminomethylation of the wobble uridine base in three mitochondrial tRNAs (mt-tRNAs). Accordingly, mutant muscle and fibroblasts showed variably combined reduction in mtDNA-dependent respiratory chain activities. Reduced respiration in mutant cells was corrected by expressing a wild-type MTO1 cDNA. Conversely, defective respiration of a yeast mto1Δ strain failed to be corrected by an Mto1(Pro622∗) variant, equivalent to human MTO1(Arg620Lysfs∗8), whereas incomplete correction was achieved by an Mto1(Ala431Thr) variant, corresponding to human MTO1(Ala428Thr). The respiratory yeast phenotype was dramatically worsened in stress conditions and in the presence of a paromomycin-resistant (P(R)) mitochondrial rRNA mutation. Lastly, in vivo mtDNA translation was impaired in the mutant yeast strains."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.04.011"xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.04.011"xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Meitinger T."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Strom T.M."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Ferrero I."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Ferrero I."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Haack T.B."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Haack T.B."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Invernizzi F."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Invernizzi F."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Prokisch H."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Dallabona C."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Dallabona C."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Ghezzi D."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Ghezzi D."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Parini R."xsd:string |
| http://purl.uniprot.org/citations/22608499 | http://purl.uniprot.org/core/author | "Parini R."xsd:string |