| http://purl.uniprot.org/citations/18186520 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18186520 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18186520 | http://www.w3.org/2000/01/rdf-schema#comment | "The most common mutation in the nephropathic cystinosis (CTNS) gene is a homozygous 57-kb deletion that also includes an adjacent gene carbohydrate kinase-like (CARKL). The latter gene encodes a protein that is predicted to function as a carbohydrate kinase. Cystinosis patients with the common 57-kb deletion had strongly elevated urinary concentrations of sedoheptulose (28-451 mmol/mol creatinine; controls and other cystinosis patients <9) and erythritol (234-1110 mmol/mol creatinine; controls and other cystinosis patients <148). Enzyme studies performed on fibroblast homogenates derived from patients carrying the 57-kb deletion revealed 80% reduction in their sedoheptulose phosphorylating activity compared to cystinosis patients with other mutations and controls. This indicates that the CARKL-encoded protein, sedoheptulokinase (SHK), is responsible for the reaction: sedoheptulose + ATP --> sedoheptulose-7-phosphate + ADP and that deletion of CARKL causes urinary accumulation of sedoheptulose and erythritol."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20685"xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20685"xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Jakobs C."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Wevers R.A."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Wevers R.A."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Engelke U."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Engelke U."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Blom H.J."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Blom H.J."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Jansen E.E."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Jansen E.E."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Struys E.A."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Struys E.A."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Wamelink M.M."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Wamelink M.M."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Levtchenko E.N."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Levtchenko E.N."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Zijlstra F.S."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/author | "Zijlstra F.S."xsd:string |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18186520 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |