| http://purl.uniprot.org/citations/24045841 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24045841 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24045841 | http://www.w3.org/2000/01/rdf-schema#comment | "Mucolipidosis (ML) II and ML IIIα/β are allelic autosomal recessive metabolic disorders due to mutations in GNPTAB. The gene encodes the enzyme UDP-GlcNAc-1-phosphotransferase (GNPT), which is critical to proper trafficking of lysosomal acid hydrolases. The ML phenotypic spectrum is dichotomous. Criteria set for defining ML II and ML IIIα/β are inclusive for all but the few patients with phenotypes that span the archetypes. Clinical and biochemical findings of the 'intermediate' ML in eight patients with the c.10A>C missense mutation in GNPTAB are presented to define this intermediate ML and provide a broader insight into ML pathogenesis. Extensive clinical information, including radiographic examinations at various ages, was obtained from a detailed study of all patients. GNPTAB was sequenced in probands and parents. GNPT activity was measured and cathepsin D sorting assays were performed in fibroblasts. Intermediate ML patients who share the c.10A>C/p.K4Q mutation in GNPTAB demonstrate a distinct, consistent phenotype similar to ML II in physical and radiographic features and to ML IIIα/β in psychomotor development and life expectancy. GNPT activity is reduced to 7-12% but the majority of newly synthesized cathepsin D remains intracellular. The GNPTAB c.10A>C/p.K4Q missense allele results in an intermediate ML II/III with distinct clinical and biochemical characteristics. This delineation strengthens the utility of the discontinuous genotype-phenotype correlation in ML II and ML IIIα/β and prompts additional studies on the tissue-specific pathogenesis in GNPT-deficient ML."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.207"xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2013.207"xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Wood T."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Wood T."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Leroy J.G."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Leroy J.G."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Stevenson R.E."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Stevenson R.E."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Cathey S.S."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Cathey S.S."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Friez M.J."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Friez M.J."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Sillence D."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Sillence D."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Lebel R.R."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Lebel R.R."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Barnes J."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Barnes J."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Steet R."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/author | "Steet R."xsd:string |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24045841 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |