| http://purl.uniprot.org/citations/18400783 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18400783 | http://www.w3.org/2000/01/rdf-schema#comment | "Phenotypic diversity associated with pathogenic mutations of the human mitochondrial genome (mtDNA) has often been explained by unequal segregation of the mutated and wild-type genomes (heteroplasmy). However, this simple hypothesis cannot explain the tissue specificity of disorders caused by homoplasmic mtDNA mutations. We have previously associated a homoplasmic point mutation (1624C>T) in MTTV with a profound metabolic disorder that resulted in the neonatal deaths of numerous siblings. Affected tissues harboured a marked biochemical defect in components of the mitochondrial respiratory chain, presumably due to the extremely low (<1%) steady-state levels of mt-tRNA(Val). In primary myoblasts and transmitochondrial cybrids established from the proband (index case) and offspring, the marked respiratory deficiency was lost and steady-state levels of the mutated mt-tRNA(Val) were greater than in the biopsy material, but were still an order of magnitude lower than in control myoblasts. We present evidence that the generalized decrease in steady-state mt-tRNA(Val) observed in the homoplasmic 1624C>T-cell lines is caused by a rapid degradation of the deacylated form of the abnormal mt-tRNA(Val). By both establishing the identity of the human mitochondrial valyl-tRNA synthetase then inducing its overexpression in transmitochondrial cell lines, we have been able to partially restore steady-state levels of the mutated mt-tRNA(Val), consistent with an increased stability of the charged mt-tRNA. These data indicate that variations in the levels of VARS2L between tissue types and patients could underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T mutation."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.org/dc/terms/identifier | "doi:10.1093/nar/gkn147"xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Rorbach J."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Taylor R.W."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "McFarland R."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Turnbull D.M."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Chrzanowska-Lightowlers Z.M."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Lightowlers R.N."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Abg-Kamaludin D.P."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Tuppen H."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/author | "Yusoff A.A."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/name | "Nucleic Acids Res"xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/pages | "3065-3074"xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/title | "Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation."xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://purl.uniprot.org/core/volume | "36"xsd:string |
| http://purl.uniprot.org/citations/18400783 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/18400783 |
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