| http://purl.uniprot.org/citations/17332895 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17332895 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17332895 | http://www.w3.org/2000/01/rdf-schema#comment | "Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS), as it distributes electrons among the various dehydrogenases and the cytochrome segments of the respiratory chain. We have identified 2 novel inborn errors of CoQ10 biosynthesis in 2 distinct families. In both cases, enzymologic studies showed that quinone-dependent OXPHOS activities were in the range of the lowest control values, while OXPHOS enzyme activities were normal. CoQ10 deficiency was confirmed by restoration of normal OXPHOS activities after addition of quinone. A genome-wide search for homozygosity in family 1 identified a region of chromosome 10 encompassing the gene prenyldiphosphate synthase, subunit 1 (PDSS1), which encodes the human ortholog of the yeast COQ1 gene, a key enzyme of CoQ10 synthesis. Sequencing of PDSS1 identified a homozygous nucleotide substitution modifying a conserved amino acid of the protein (D308E). In the second family, direct sequencing of OH-benzoate polyprenyltransferase (COQ2), the human ortholog of the yeast COQ2 gene, identified a single base pair frameshift deletion resulting in a premature stop codon (c.1198delT, N401fsX415). Transformation of yeast Deltacoq1 and Deltacoq2 strains by mutant yeast COQ1 and mutant human COQ2 genes, respectively, resulted in defective growth on respiratory medium, indicating that these mutations are indeed the cause of OXPHOS deficiency."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci29089"xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci29089"xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "de Lonlay P."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "de Lonlay P."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Rotig A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Rotig A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Chretien D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Chretien D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Delahodde A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Delahodde A."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Dallner G."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Dallner G."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Mollet J."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Mollet J."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Schlemmer D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Schlemmer D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Bacq D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Bacq D."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Giurgea I."xsd:string |
| http://purl.uniprot.org/citations/17332895 | http://purl.uniprot.org/core/author | "Giurgea I."xsd:string |