RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/18953340http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18953340http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18953340http://www.w3.org/2000/01/rdf-schema#comment"We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.org/dc/terms/identifier"doi:10.1038/ng.246"xsd:string
http://purl.uniprot.org/citations/18953340http://purl.org/dc/terms/identifier"doi:10.1038/ng.246"xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Hansikova H."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Hansikova H."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Hartmannova H."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Hartmannova H."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Honzik T."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Honzik T."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Kmoch S."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Kmoch S."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Stranecky V."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Stranecky V."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Zeman J."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Zeman J."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Mayr J.A."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Mayr J.A."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Sperl W."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Sperl W."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Tesarova M."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Tesarova M."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Houstek J."xsd:string
http://purl.uniprot.org/citations/18953340http://purl.uniprot.org/core/author"Houstek J."xsd:string