| http://purl.uniprot.org/citations/15300847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15300847 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15300847 | http://www.w3.org/2000/01/rdf-schema#comment | "Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase (IDUA). Mutations in the gene are responsible for the enzyme deficiency, which leads to the intralysosomal storage of the partially degraded glycosaminoglycans dermatan sulfate and heparan sulfate. Molecular characterization of MPS I patients has resulted in the identification of over 70 distinct mutations in the IDUA gene. The high degree of molecular heterogeneity reflects the wide clinical variability observed in MPS I patients. Six novel mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, and c.1269C>G (p.S423R), in a total of 14 different mutations, and 13 different polymorphic changes, including the novel c.246C>G (p.H82Q), were identified in a cohort of 10 MPS I patients enrolled in a clinical trial of enzyme-replacement therapy. Five novel amino acid substitutions and c.236C>T (p.A79V) were engineered into the wild-type IDUA cDNA and expressed. A p.G265R read-through mutation, arising from the c.793G>C splice mutation, was also expressed. Each mutation reduced IDUA protein and activity levels to varying degrees with the processing of many of the mutant forms also affected by IDUA. The varied properties of the expressed mutant forms of IDUA reflect the broad range of biochemical and clinical phenotypes of the 10 patients in this study. IDUA kinetic data derived from each patient's cultured fibroblasts, in combination with genotype data, was used to predict disease severity. Finally, residual IDUA protein concentration in cultured fibroblasts showed a weak correlation to the degree of immune response to enzyme-replacement therapy in each patient."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20081"xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20081"xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Yogalingam G."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Yogalingam G."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Clements P.R."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Clements P.R."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Hopwood J.J."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Brooks D.A."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Brooks D.A."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Guo X.H."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Guo X.H."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Kakkis E.D."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Kakkis E.D."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Muller V.J."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/author | "Muller V.J."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/pages | "199-207"xsd:string |
| http://purl.uniprot.org/citations/15300847 | http://purl.uniprot.org/core/pages | "199-207"xsd:string |