Human αN-acetylglucosaminidase,αNAG ELISA Kit

1. findings show that the NAGLU protein consists of a precursor and a mature form and that in slowly progressing mucopolysaccharidosis type IIIB patients' fibroblasts only the precursor protein is present at 37 degrees ; culturing at lower temperatures resulted in the formation of the mature, enzymatically active form, due to higher mRNA levels and improved processing PMID: 28751108
2. CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests. PMID: 27590925
3. Mutation in NAGLU gene is associated with atypical mucopolysaccharidosis IIIB. PMID: 28306536
4. in the current meta-analysis, based on ten prospective studies involving 29366 participants, we evaluated the role of urinary tubular injury markers (NGAL, KIM-1 and NAG) in predicting clinical outcomes including CKD stage 3, end stage renal disease and mortality. PMID: 27907168
5. Mutations in NAGLU gene is associated with idiopathic progressive cognitive decline. PMID: 25466957
6. Plasma NAG correlates with gastrointestinal cancer outcomes. PMID: 25040106
7. study reports that carriers from two families of a severe pathogenic mutation in NAGLU develop a late dominant painful axonal sensory neuropathy. PMID: 25818867
8. A modified recombinant NAGLU fused to the receptor-binding motif of insulin-like growth factor (IGF)-II enhances its ability to enter cells using the mannose 6-phosphate receptor, which is the receptor for IGF-II at a different binding site. PMID: 24266751
9. The research may enrich the mutation spectrum of the NAGLU gene in the Chinese population and help us further in understanding the pathogenesis of MPS IIIB. PMID: 23380547
10. Urinary NAG/Cr may be a useful surrogate marker for renal function in ADPKD patients. PMID: 22935351
11. This study suggests a possible role of NAGLU in susceptibility to PD while extending evidence for alpha-synuclein aggregation in the brain in lysosomal storage disorders. PMID: 22102531
12. We have identified an 1146 bp intragenic deletion of the NAGLU gene within consanguineous parents having two children affected with Sanfilippo syndrome type B. PMID: 20138557
13. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications PMID: 11668611
14. Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU PMID: 11793481
15. The NAGLU gene in 11 Mucopolysaccharidosis type IIIB Portuguese patients, was examined, having identified five novel (M1K, W147X, G304V, S522P, and R533X) and four previously reported mutations (W168X, R234C, R565W and R643C). PMID: 18218046

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HGNC: 7632

OMIM: 252920

KEGG: hsa:4669

STRING: 9606.ENSP00000225927

UniGene: Hs.50727