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http://purl.uniprot.org/citations/15877282http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15877282http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15877282http://www.w3.org/2000/01/rdf-schema#comment"The mitochondrial DNA (mtDNA) depletion syndrome is a quantitative defect of mtDNA resulting from dysfunction of one of several nuclear-encoded factors responsible for maintenance of mitochondrial deoxyribonucleoside triphosphate (dNTP) pools or replication of mtDNA. Markedly decreased succinyl-CoA synthetase activity due to a deleterious mutation in SUCLA2, the gene encoding the beta subunit of the ADP-forming succinyl-CoA synthetase ligase, was found in muscle mitochondria of patients with encephalomyopathy and mtDNA depletion. Succinyl-CoA synthetase is invariably in a complex with mitochondrial nucleotide diphosphate kinase; hence, we propose that a defect in the last step of mitochondrial dNTP salvage is a novel cause of the mtDNA depletion syndrome."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.org/dc/terms/identifier"doi:10.1086/430843"xsd:string
http://purl.uniprot.org/citations/15877282http://purl.org/dc/terms/identifier"doi:10.1086/430843"xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Miller C."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Miller C."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Rahman S."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Rahman S."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Elpeleg O."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Elpeleg O."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Saada A."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Saada A."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Pagnamenta A."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Pagnamenta A."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Bitner-Glindzicz M."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Bitner-Glindzicz M."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Hershkovitz E."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Hershkovitz E."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Bondi-Rubinstein G."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Bondi-Rubinstein G."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Eshhar S."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/author"Eshhar S."xsd:string
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/date"2005"xsd:gYear
http://purl.uniprot.org/citations/15877282http://purl.uniprot.org/core/date"2005"xsd:gYear