| http://purl.uniprot.org/citations/25766404 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/25766404 | http://www.w3.org/2000/01/rdf-schema#comment | "Disruption of the Krebs cycle is a hallmark of cancer. IDH1 and IDH2 mutations are found in many neoplasms, and germline alterations in SDH genes and FH predispose to pheochromocytoma/paraganglioma and other cancers. We describe a paraganglioma family carrying a germline mutation in MDH2, which encodes a Krebs cycle enzyme. Whole-exome sequencing was applied to tumor DNA obtained from a man age 55 years diagnosed with multiple malignant paragangliomas. Data were analyzed with the two-sided Student's t and Mann-Whitney U tests with Bonferroni correction for multiple comparisons. Between six- and 14-fold lower levels of MDH2 expression were observed in MDH2-mutated tumors compared with control patients. Knockdown (KD) of MDH2 in HeLa cells by shRNA triggered the accumulation of both malate (mean ± SD: wild-type [WT] = 1±0.18; KD = 2.24±0.17, P = .043) and fumarate (WT = 1±0.06; KD = 2.6±0.25, P = .033), which was reversed by transient introduction of WT MDH2 cDNA. Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.org/dc/terms/identifier | "doi:10.1093/jnci/djv053"xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Satrustegui J."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Richter S."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Robledo M."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Contreras L."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Setien F."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Rodriguez-Antona C."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Roncador G."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Azriel S."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Esteller M."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Cascon A."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Leton R."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Moran S."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Apellaniz-Ruiz M."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Comino-Mendez I."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Curras-Freixes M."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Eisenhofer G."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Garcia J.F."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Gomez-Grana A."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Inglada-Perez L."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Mancikova V."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "Urioste M."xsd:string |
| http://purl.uniprot.org/citations/25766404 | http://purl.uniprot.org/core/author | "de Cubas A.A."xsd:string |