| http://purl.uniprot.org/citations/16151907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16151907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16151907 | http://www.w3.org/2000/01/rdf-schema#comment | "Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity, aggressiveness and delayed development, followed by progressive mental deterioration, although there are a small number of late-onset attenuated cases. The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. In total, 34 of the 36 mutant alleles were characterized in this study and 20 different mutations were identified including 8 novel changes (R38W, V77G, 407-410del4, 703delT, A246P, Y335C, 1487delT, E639X). The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-005-0093-y"xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10545-005-0093-y"xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Jackson M."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Jackson M."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Winchester B.G."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Winchester B.G."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Beesley C.E."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Beesley C.E."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Vellodi A."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Vellodi A."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Young E.P."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/author | "Young E.P."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/name | "J. Inherit. Metab. Dis."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/pages | "759-767"xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/pages | "759-767"xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/title | "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/title | "Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)."xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/volume | "28"xsd:string |
| http://purl.uniprot.org/citations/16151907 | http://purl.uniprot.org/core/volume | "28"xsd:string |