Recombinant Human Alpha-L-iduronidase (IDUA)

1. Enzyme activities (acid alpha-glucosidase (GAA), galactocerebrosidase (GALC), glucocerebrosidase (GBA), alpha-galactosidase A (GLA), alpha-iduronidase (IDUA) and sphingomyeline phosphodiesterase-1 (SMPD-1)) were measured on ~43,000 de-identified dried blood spot (DBS) punches, and screen positive samples were submitted for DNA sequencing to obtain genotype confirmation of disease risk PMID: 27238910
2. Using lysosomal storage disease mucopolysaccharidosis type I (MPS I) dogs tolerized to human IDUA as neonates, we evaluated intrathecal delivery of an adeno-associated virus serotype 9 vector expressing human IDUA as a therapy for the central nervous system manifestations of MPS PMID: 27386755
3. IDUA deletion mutation is associate with with mucopolysaccharidosis type I . PMID: 28604952
4. 10 unrelated Korean patients with Mucopolysaccharidosis I, p.L346R and c.704ins5 were most commonly found in Korean patients with Mucopolysaccharidosis I. PMID: 27520059
5. Molecular studies results unveiled the predominance of(Pro533Arg) IDUA variation in a series of 13 Algerian patients with Mucopolysaccharidosis Type I presented mainly with an attenuated phenotype. PMID: 27196898
6. A new IDUA variant that alters the structure of the signal peptide associated with mucopolysaccharidosis type I is reported. PMID: 25256405
7. Amino acid substitutions in alpha-L-iduronidase determine the severity of mucopolysaccharidosis type I. PMID: 24480078
8. The alpha-L-iduronidase missense mutation causing L238Q substitution, when paired with a nonsense mutation, is associated with significant, late-onset brain disease. PMID: 24368159
9. We conclude that this procedure for determining residual IDUA activity in fibroblasts of MPS I patients may be helpful to predict MPS I phenotype. PMID: 23786846
10. The IDUA structures and biochemical analysis of the disease-relevant P533R mutation have enabled us to correlate the effects of mutations in IDUA to clinical phenotypes. PMID: 24036510
11. Data show that alpha-l-iduronidase (hIDUA) enzyme activity was highly correlated with the N-glycan attached to N372. PMID: 23959878
12. X-ray diffraction analysis of human alpha-L-iduronidase PMID: 23143250
13. Transfer of a high level of human alpha-L-iduronidase gene into the central nervous system (CNS) of MPS I mutant mice susceptible to mucopolysaccharidosis (MPS) improves the outcome for MPS when a high level of CNS gene expression is achieved. PMID: 21397026
14. A previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+3G>C) causing a Hurler phenotype in a patient heterozygous for the common p.Q70X (NG_008103.1:g.5862C>T) mutation. PMID: 21831683
15. This paper, showed a heterogeneous pattern of mutations and polymorphisms in the IDUA gene among Tunisian patients. PMID: 21521498
16. this study characterized the underlying IDUA mutations in a group of 102 newly studied European patients, including 37 Italians, whose condition has been clinically and biochemically diagnosed as MPS I. PMID: 21394825
17. The identification of two novel alpha-L-iduronidase mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia. PMID: 21639919
18. study describes monozygotic twins with an attenuated form of mucopolysaccharidosis type I associated with a novel mutation of IDUA, who both showed cervical myelopathy as the initial and cardinal manifestation PMID: 21176924
19. This study reports a novel mutation in IDUA, expanding the mutational spectrum for mucopolysaccharidosis type I. PMID: 21364962
20. Studies show that mouse Idua-W392X mutation is analogous to the human IDUA-W402X mutation commonly found in MPS I-H patients. PMID: 19751987
21. This is the first report of IDUA mutations in Egyptian patients with mucopolysaccharidosis type I. PMID: 19839758
22. Results show that leukocyte IDUA from mucopolysaccharidosis I heterozygotes differs from the normal enzyme in terms of optimum pH, Km, Vmax and thermostability at 50 degrees C. PMID: 11825626
23. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. PMID: 12559846
24. 6 new mutations, c.1087C>T (p.R363C), c.1804T>A (p.F602I), c.793G>C, c.712T>A (p.L238Q), c.1727+2T>A, & c.1269C>G (p.S423R), in a total of 14 different mutations, & 13 polymorphisms , including the new c.246C>G (p.H82Q), were found in 10 MPS I pts. PMID: 15300847
25. Model provides insights into why certain point mutations produce misfolded proteins and lead to severe mucopolysaccharidosis I, while other mutations produce proteins with minor structural perturbations and therefore the attenuated form of the disease. PMID: 15862278
26. analysis of Alpha-L-Iduronidase mutations in Mucopolysaccharidosis I in Tunisia PMID: 16435195
27. Describe a cohort of 14 Hurler-Scheie patients homozygous for the p.Leu490Pro missense mutation in the alpha-L-iduronidase gene. PMID: 17570076
28. Analysis of the structural change in alpha-L-iduronidase of the severe mucopolysaccharidosis type I (MPS I) group and that of the attenuated disease, except for a couple of mutations, can help to predict the clinical outcome of MPS I. PMID: 18340403
29. Mutations in the 130 C-terminal amino acids lead to clinical manifestations of Mucopolysaccharidosis type I , which indicates a functional importance of the C-terminus of the IDUA protein. PMID: 19396826

显示更多

收起更多

HGNC: 5391

OMIM: 252800

KEGG: hsa:3425

STRING: 9606.ENSP00000247933

UniGene: Hs.89560