| http://purl.uniprot.org/citations/16601870 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16601870 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16601870 | http://www.w3.org/2000/01/rdf-schema#comment | "3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine metabolism. The disease is caused by mutations in the gene coding for 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL). To date 26 different mutations have been described. A (betaalpha)(8) TIM barrel structure has been proposed for the protein, and almost all missense mutations identified so far localize in the beta sheets that define the inside cavity. We report an Italian patient who bears homozygously a novel HL mutation, c.608G > A (p. G203E) in beta sheet six. A structural model of the mutated protein suggests that glutamic acid 203 impedes catalysis by blocking the entrance to the inner cavity of the enzyme. Loss of functionality has been confirmed in expression studies in E. coli, which demonstrate that the G203E mutation completely abolishes enzyme activity. Beta sheet six and beta sheet two are the two protein regions that accumulate most missense mutations, indicating their importance in enzyme functionality. A model for the mechanism of enzyme function is proposed."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-006-0138-x"xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-006-0138-x"xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Gomez-Puertas P."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Gomez-Puertas P."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Lopez-Vinas E."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Lopez-Vinas E."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Dionisi-Vici C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Dionisi-Vici C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Deodato F."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Deodato F."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Casals N."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Casals N."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Hegardt F.G."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Hegardt F.G."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Rizzo C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Rizzo C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Aledo R."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Aledo R."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Mir C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Mir C."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Pie J."xsd:string |
| http://purl.uniprot.org/citations/16601870 | http://purl.uniprot.org/core/author | "Pie J."xsd:string |