| http://purl.uniprot.org/citations/23086801 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23086801 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23086801 | http://www.w3.org/2000/01/rdf-schema#comment | "This article describes a hitherto unreported involvement of the phosphatase PP2Cm, a recently described member of the branched-chain α-keto acid dehydrogenase (BCKDH) complex, in maple syrup urine disease (MSUD). The disease-causing mutation was identified in a patient with a mild variant phenotype, involving a gene not previously associated with MSUD. SNP array-based genotyping showed a copy-neutral homozygous pattern for chromosome 4 compatible with uniparental isodisomy. Mutation analysis of the candidate gene, PPM1K, revealed a homozygous c.417_418delTA change predicted to result in a truncated, unstable protein. No PP2Cm mutant protein was detected in immunocytochemical or Western blot expression analyses. The transient expression of wild-type PPM1K in PP2Cm-deficient fibroblasts recovered 35% of normal BCKDH activity. As PP2Cm has been described essential for cell survival, apoptosis and metabolism, the impact of its deficiency on specific metabolic stress variables was evaluated in PP2Cm-deficient fibroblasts. Increases were seen in ROS levels along with the activation of specific stress-signaling MAP kinases. Similar to that described for the pyruvate dehydrogenase complex, a defect in the regulation of BCKDH caused the aberrant metabolism of its substrate, contributing to the patient's MSUD phenotype--and perhaps others."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22242"xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22242"xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Martinez-Pardo M."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Martinez-Pardo M."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Navarrete R."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Navarrete R."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Ugarte M."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Ugarte M."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Rodriguez-Pombo P."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Rodriguez-Pombo P."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Merinero B."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Merinero B."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Oyarzabal A."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Oyarzabal A."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Desviat L.R."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/author | "Desviat L.R."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/pages | "355-362"xsd:string |
| http://purl.uniprot.org/citations/23086801 | http://purl.uniprot.org/core/pages | "355-362"xsd:string |