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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.

Bie H, Yin J, He X, Kermode AR, Goddard-Borger ED, Withers SG, James MN
Nat Chem Biol 9 739-45 (2013)
Related entries: 4kgl, 4kh2, 4mj2, 4mj4

Cited: 34 times
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Abstract

Mucopolysaccharidosis type I (MPS I), caused by mutations in the gene encoding α-L-iduronidase (IDUA), is one of approximately 70 genetic disorders collectively known as the lysosomal storage diseases. To gain insight into the basis for MPS I, we crystallized human IDUA produced in an Arabidopsis thaliana cgl mutant. IDUA consists of a TIM barrel domain containing the catalytic site, a β-sandwich domain and a fibronectin-like domain. Structures of IDUA bound to iduronate analogs illustrate the Michaelis complex and reveal a (2,5)B conformation in the glycosyl-enzyme intermediate, which suggest a retaining double displacement reaction involving the nucleophilic Glu299 and the general acid/base Glu182. Unexpectedly, the N-glycan attached to Asn372 interacts with iduronate analogs in the active site and is required for enzymatic activity. Finally, these 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.

Reviews - 4kgj mentioned but not cited (1)

  1. Dissecting conformational contributions to glycosidase catalysis and inhibition. Speciale G, Thompson AJ, Davies GJ, Williams SJ. Curr Opin Struct Biol 28 1-13 (2014)

Articles - 4kgj mentioned but not cited (1)

  1. Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase. Bie H, Yin J, He X, Kermode AR, Goddard-Borger ED, Withers SG, James MN. Nat Chem Biol 9 739-745 (2013)


Reviews citing this publication (7)

  1. Characteristics and Therapeutic Potential of Human Amnion-Derived Stem Cells. Liu QW, Huang QM, Wu HY, Zuo GS, Gu HC, Deng KY, Xin HB. Int J Mol Sci 22 970 (2021)
  2. Pharmacological chaperone therapy for lysosomal storage diseases. Parenti G, Moracci M, Fecarotta S, Andria G. Future Med Chem 6 1031-1045 (2014)
  3. Uronic polysaccharide degrading enzymes. Garron ML, Cygler M. Curr Opin Struct Biol 28 87-95 (2014)
  4. Worldwide distribution of common IDUA pathogenic variants. Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G. Clin Genet 94 95-102 (2018)
  5. Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders. Placci M, Giannotti MI, Muro S. Adv Drug Deliv Rev 197 114683 (2023)
  6. Implementation of personalized medicine for fracture risk assessment in osteoporosis. Mori S, Zhou H. Geriatr Gerontol Int 16 Suppl 1 57-65 (2016)
  7. X-Ray Crystallography in Structure-Function Characterization of Therapeutic Enzymes. Papageorgiou AC. Adv Exp Med Biol 1148 81-103 (2019)

Articles citing this publication (25)

  1. Characterization of the Pseudomonas aeruginosa Glycoside Hydrolase PslG Reveals That Its Levels Are Critical for Psl Polysaccharide Biosynthesis and Biofilm Formation. Baker P, Whitfield GB, Hill PJ, Little DJ, Pestrak MJ, Robinson H, Wozniak DJ, Howell PL. J Biol Chem 290 28374-28387 (2015)
  2. GlycoMinestruct: a new bioinformatics tool for highly accurate mapping of the human N-linked and O-linked glycoproteomes by incorporating structural features. Li F, Li C, Revote J, Zhang Y, Webb GI, Li J, Song J, Lithgow T. Sci Rep 6 34595 (2016)
  3. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry. Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J. Clin Genet 96 281-289 (2019)
  4. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N, Delaney K, Yund B, Shapiro E. Mol Genet Metab 111 123-127 (2014)
  5. Phenotype prediction for mucopolysaccharidosis type I by in silico analysis. Ou L, Przybilla MJ, Whitley CB. Orphanet J Rare Dis 12 125 (2017)
  6. Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model. Rodriguez NS, Yanuaria L, Parducho KMR, Garcia IM, Varghese BA, Grubbs BH, Miki T. Stem Cells Transl Med 6 1583-1594 (2017)
  7. Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. Chistiakov DA, Savost'anov KV, Kuzenkova LM, Gevorkyan AK, Pushkov AA, Nikitin AG, Pakhomov AV, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Mayansky NA, Namazova-Baranova LS, Baranov AA. Clin Chim Acta 436 112-120 (2014)
  8. IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I. Ghosh A, Mercer J, Mackinnon S, Yue WW, Church H, Beesley CE, Broomfield A, Jones SA, Tylee K. Hum Mutat 38 1555-1568 (2017)
  9. N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-L-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I. Pierce OM, McNair GR, He X, Kajiura H, Fujiyama K, Kermode AR. Plant Mol Biol 95 593-606 (2017)
  10. Structure and function of Bs164 β-mannosidase from Bacteroides salyersiae the founding member of glycoside hydrolase family GH164. Armstrong Z, Davies GJ. J Biol Chem 295 4316-4326 (2020)
  11. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. Ngiwsara L, Ketudat-Cairns JR, Sawangareetrakul P, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Tim-Aroon T, Wattanasirichaigoon D, Svasti J. Ann Hum Genet 82 150-157 (2018)
  12. An Integrated Computational Framework to Assess the Mutational Landscape of α-L-Iduronidase IDUA Gene. Tanwar H, George Priya Doss C. J Cell Biochem 119 555-565 (2018)
  13. Genetic risk score based on the lifetime prevalence of femoral fracture in 924 consecutive autopsies of Japanese males. Zhou H, Mori S, Ishizaki T, Tanaka M, Tanisawa K, Mieno MN, Sawabe M, Arai T, Muramatsu M, Yamada Y, Ito H. J Bone Miner Metab 34 685-691 (2016)
  14. New Irreversible α-l-Iduronidase Inhibitors and Activity-Based Probes. Artola M, Kuo CL, McMahon SA, Oehler V, Hansen T, van der Lienden M, He X, van den Elst H, Florea BI, Kermode AR, van der Marel GA, Gloster TM, Codée JDC, Overkleeft HS, Aerts JMFG. Chemistry 24 19081-19088 (2018)
  15. Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations. Shafaat M, Hashemi M, Majd A, Abiri M, Zeinali S. Metab Brain Dis 34 1447-1455 (2019)
  16. Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree. Zhou YA, Li P, Zhang Y, Xiong Q, Li C, Zhao Z, Wang Y, Xiao H. Mol Genet Genomic Med 8 e1058 (2020)
  17. Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations. Kamranjam M, Alaei M. Genet Test Mol Biomarkers 23 515-522 (2019)
  18. A combinatorial approach towards the synthesis of non-hydrolysable triazole-iduronic acid hybrid inhibitors of human α-l-iduronidase: discovery of enzyme stabilizers for the potential treatment of MPSI. Cheng WC, Lin CK, Li HY, Chang YC, Lu SJ, Chen YS, Chang SY. Chem Commun (Camb) 54 2647-2650 (2018)
  19. A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation. Ahmed A, Ou L, Rudser K, Shapiro E, Eisengart JB, King K, Chen A, Dickson P, Whitley CB. Mol Genet Metab Rep 20 100484 (2019)
  20. Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I. Lin CY, Lin HY, Chuang CK, Zhang PH, Tu YR, Lin SP, Tsai HJ. J Pers Med 12 1199 (2022)
  21. Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders. Zeng Y, He X, Danyukova T, Pohl S, Kermode AR. J Clin Med 8 E2190 (2019)
  22. Case Reports A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report. Kamranjam M, Hosseini SM, Alaei M. J Pediatr Genet 8 212-217 (2019)
  23. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I. Li Y, Tang X, Meng Y, Luo G, Yu X. J Genet 98 65 (2019)
  24. Lessons from molecular modeling human α-L-iduronidase. Figueiredo DF, Antunes DA, Rigo MM, Mendes MF, Silva JP, Mayer FQ, Matte U, Giugliani R, Vieira GF, Sinigaglia M. J Mol Graph Model 54 107-113 (2014)
  25. Michael James (1940-2023). Glover JNM, Kay CM, Lemieux J, Read RJ. Acta Crystallogr D Struct Biol 79 953-955 (2023)


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