| http://purl.uniprot.org/citations/26749241 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26749241 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26749241 | http://www.w3.org/2000/01/rdf-schema#comment | "SDHAF1 mutations cause a rare mitochondrial complex II (CII) deficiency, which manifests as infantile leukoencephalopathy with elevated levels of serum and white matter succinate and lactate. Here, we demonstrate that SDHAF1 contributes to iron-sulfur (Fe-S) cluster incorporation into the Fe-S subunit of CII, SDHB. SDHAF1 transiently binds to aromatic peptides of SDHB through an arginine-rich region in its C terminus and specifically engages a Fe-S donor complex, consisting of the scaffold, holo-ISCU, and the co-chaperone-chaperone pair, HSC20-HSPA9, through an LYR motif near its N-terminal domain. Pathogenic mutations of SDHAF1 abrogate binding to SDHB, which impairs biogenesis of holo-SDHB and results in LONP1-mediated degradation of SDHB. Riboflavin treatment was found to ameliorate the neurologic condition of patients. We demonstrate that riboflavin enhances flavinylation of SDHA and reduces levels of succinate and Hypoxia-Inducible Factor (HIF)-1α and -2α, explaining the favorable response of patients to riboflavin."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cmet.2015.12.005"xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cmet.2015.12.005"xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Singh A."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Singh A."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Maio N."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Maio N."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Rouault T.A."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Rouault T.A."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Bertini E."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Zeviani M."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Ghezzi D."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Ghezzi D."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Carrozzo R."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Martinelli D."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Martinelli D."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Rizza T."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Rizza T."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Verrigni D."xsd:string |
| http://purl.uniprot.org/citations/26749241 | http://purl.uniprot.org/core/author | "Verrigni D."xsd:string |