| http://purl.uniprot.org/citations/16545926 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16545926 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16545926 | http://www.w3.org/2000/01/rdf-schema#comment | "Mercaptopyruvate sulfurtransferase (MPST) plays a central role in both cysteine degradation and cyanide detoxification. Moreover, deficiency in MPST activity has been suggested to be responsible for a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). To date, no mutation of the human MPST gene has been reported. We developed a screening strategy to search for mutations in the MPST gene of 50 unrelated French individuals. Two intronic polymorphisms (IVS1-110C>G and IVS2+39C>T) and a nonsense mutation (Tyr(85)Stop) were identified and their functional consequences were assessed in vivo by measurement of erythrocyte MPST activity and/or in vitro using heterologous expression or transient transfection assay. The nonsense mutation likely leads to the synthesis of a severely truncated protein without enzymatic activity, as supported by our in vitro data. This work constitutes the first report of the existence of a functional genetic polymorphism affecting MPST and should be of great help to investigate certain disorders such as MCDU."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.toxlet.2006.02.002"xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.toxlet.2006.02.002"xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Allorge D."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Allorge D."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Broly F."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Broly F."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Chevalier D."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Chevalier D."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Cauffiez C."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Cauffiez C."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Billaut-Laden I."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Billaut-Laden I."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Lo-Guidice J.M."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Lo-Guidice J.M."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Rat E."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Rat E."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Crunelle-Thibaut A."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/author | "Crunelle-Thibaut A."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/name | "Toxicol. Lett."xsd:string |
| http://purl.uniprot.org/citations/16545926 | http://purl.uniprot.org/core/name | "Toxicol Lett"xsd:string |