| http://purl.uniprot.org/citations/8896573 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8896573 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8896573 | http://www.w3.org/2000/01/rdf-schema#comment | "5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. The metabolic defect results in low GSH levels presumably with feedback over-stimulation of gamma-glutamylcysteine synthesis and its subsequent conversion to 5-oxoproline. In this study, we cloned and characterized the human GSS gene and examined three families with four cases of well-documented 5-oxoprolinuria. We identified seven mutations at the GSS locus on six alleles: one splice site mutation, two deletions and four missense mutations. Bacterial expression and yeast complementation assays of the cDNAs encoded by these alleles demonstrated their functional defects. We also characterized a fifth case, an homozygous missense mutation in the gene in an individual affected by a milder-form of the GSS deficiency, which is apparently restricted to erythrocytes and only associated with haemolytic anaemia. Our data provide the first molecular genetic analysis of 5-oxoprolinuria and demonstrate that GSS deficiency with oxoprolinuria and GSS deficiency without 5-oxoprolinuria are caused by mutations in the same gene."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1196-361"xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1196-361"xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "He X."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "He X."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Gahl W.A."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Rhead W.J."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Rhead W.J."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Sazer S."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Sazer S."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Habib G.M."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Habib G.M."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Lieberman M.W."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Lieberman M.W."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Shi Z.-Z."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/author | "Shi Z.-Z."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/pages | "361-365"xsd:string |
| http://purl.uniprot.org/citations/8896573 | http://purl.uniprot.org/core/pages | "361-365"xsd:string |