Recombinant Human Iduronate 2-sulfatase (IDS)

1. IDS structure revealed by X-ray crystallography provides essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes. PMID: 28593992
2. Study analyzed the genotype-phenotype relationship for 17 patients with mucopolysaccharidosis II and performed expression studies for 12 variants, nine of which have not been reported previously; speculated that very low or cell-type-specific IDS residual activity is sufficient to prevent the neuronal phenotype. PMID: 28543354
3. Study identified 16 novel mutations in the IDS gene and revealed that the severe type of mucopolysaccharidosis type II is strongly associated with large structural alteration of the gene. PMID: 27246110
4. Functional characterization of all the novel sequence variants identified in the study would be helpful to confirm the clinical significance and to determine the effect of these variations on the function of respective proteins (IDUA and IDS) PMID: 27146977
5. A splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous. PMID: 28186595
6. Extensive iduronate 2-sulfatase (Hunter syndrome) (IDS) gene deletions were identified in four mucopolysaccharidosis type II (MPSII) patients. PMID: 26762690
7. Two new mutations were discovered: p.K236N (c.708G>C) and p.Q80K (c.238C>A) which resulted in a severe phenotype and early death of Muccopolysaccharridosis Type II patients from Bulgaria and Macedonia. PMID: 22286622
8. p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation PMID: 24780617
9. This study evaluated a novel mutation in the IDS gene among 8 male Hunter syndrome patients; there was a quantitative deficiency of NK and B cell with normal responses in other immune parameters. PMID: 25038527
10. 30 novel iduronate sulfatase mutations have been identified in mucopolysaccharidosis type II Latin American patients. PMID: 24125893
11. Identification of a splice site mutation in the IDS gene associated with mucopolysaccharidosis type II. PMID: 23867855
12. a novel (p.R468P) and five known (p.R88C, p.D148V, p.G224A, p.Y348X, and p.R468Q) IDS mutations were shown to result in proteins with little or no IDS activity and altered protein processing, when expressed in COS7 cells PMID: 22990955
13. A report of a novel IDS nonsense mutation resulting in mucopolysaccharidosis type II in several patients from a Chinese family. PMID: 22622771
14. genetically analyze patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene PMID: 22492741
15. Family members with 3 generations of X-inactivation with Hunter syndrome have 1568A>G missence mutation in the IDS gene PMID: 21062272
16. LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining PMID: 21593745
17. Hunter syndrome in Thailand is caused by a diverse set of defects affecting both IDS protein production and activity. PMID: 18500569
18. study describes a woman with mild manifestations of Hunter syndrome who gave birth to a daughter; both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene PMID: 21108396
19. The in vivo correction of heritable gene lesions at the RNA level operating via a correction mechanism akin to RNA-editing, was observed for IDS mutant transcript. PMID: 20104590
20. The results illustrated that the deletion and frame-shift mutation of c.876-877 del TC detected in IDS gene was a novel pathologic mutation,, which was the underlying cause of MPS II of this patient. PMID: 19933090
21. patterns of cytosine methylation in the entire IDS gene PMID: 15146464
22. Mucopolysaccharidosis type II patients with sever CNS involvement and age of onset by 3 years of age had four IDS amino acid substitutions S333L,C53X,E341K, and P480R. PMID: 15500445
23. a total of 17 identified missense, small deletion, and nonsense mutations were further characterized by transient expression studies. PMID: 15614569
24. large deletion correlated with the severe phenotype of this Hunter syndrome patient. PMID: 15909065
25. The IDS gene was analyzed in Japanese patients with mucopolysaccharidosis II. PMID: 16133661
26. IDS activity in female carriers was less than a half of the normal level PMID: 16480701
27. These findings suggest methylation patterns in the beginning of IDS genomic region are polymorphic in humans and that hypermethylation in this region in some individuals predisposes them to CpG mutations resulting in Hunter syndrome. PMID: 16617305
28. The balance between constitutive and cryptic splice sites in the IDS gene is very sensitive. PMID: 16699754
29. A new point mutation (T1140C) in exon 8 of the IDS gene was found in Hunter syndrome. PMID: 16735228
30. the IDS gene is prone to splicing mutations in Portuguese patients with mucopolysaccharidosis type II PMID: 17063374
31. analysis of iduronate-2-sulfatase enzymatic activity, protein processing and structure PMID: 17091340
32. Two novel mutations were identified in the human iduronate-2-sulfatase (IDS) gene in two patients from unrelated families with mucopolysaccharidosis type II(MPS II). PMID: 17284421
33. Identification of a novel nonsense mutation (p.Y54X) in the IDS gene of severely affected MPS II patients of African origin. PMID: 17616540
34. The molecular characterization of one novel missense mutation (p.S305P) and 1 splice site mutation (c.1006 +5G > C) associated with mucopolysaccharidosis type II was presented. PMID: 17655837
35. frame-shift deletion mutation (1062 del 16) was identified in exon 7 of the patient's IDS gene PMID: 17657858
36. A new mutation, an A>T change at nucleotide 595, substitutes a premature stop codon for a lysine at amino acid 199 of the IDS enzyme. PMID: 18546295
37. IDS has a role in glucose-stimulated insulin secretion via a mechanism that involves the activation of exocytosis through phosphorylation of PKCalpha and MARCKS. PMID: 19602578
38. novel mutations in Italian patients with mucopolysaccharidosis type II PMID: 11462244

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HGNC: 5389

OMIM: 300823

KEGG: hsa:3423

STRING: 9606.ENSP00000339801

UniGene: Hs.460960