ArticleNature chemical biology2013
Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase.
Article in Nature chemical biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.
What it found
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Who cites it
31 citing papers in PubMed, 62 citations in OpenAlex.
- Genetic risk score based on the lifetime prevalence of femoral fracture in 924 consecutive autopsies of Japanese males.Journal of bone and mineral metabolism · 2016Trial
- Molecular Dynamics Reveals a Glycan Conformation Underlying IDUA Dysfunction in Attenuated MPS I.Journal of cellular and molecular medicine · 2026Article
- Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panel.Molecular genetics and metabolism · 2026Article
- Unbiased characterization of COVID-19 endotypes leads to prognostication of high-risk individuals using routine blood tests.Communications medicine · 2026Article
- Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.Molecular genetics and metabolism reports · 2025Article
- CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.International journal of molecular sciences · 2025Article
- Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.BMC genomics · 2024Article
- Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.Molecular genetics & genomic medicine · 2024Article
- Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Biomolecules · 2024Article
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.Bioinformation · 2023Article
- Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of MutatedJournal of personalized medicine · 2022Article
- c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.The protein journal · 2021Article
- Characteristics and Therapeutic Potential of Human Amnion-Derived Stem Cells.International journal of molecular sciences · 2021Review
- Structure and function ofThe Journal of biological chemistry · 2020Article
- Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.Molecular genetics & genomic medicine · 2020Article
- Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders.Journal of clinical medicine · 2019Article
- A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.Journal of pediatric genetics · 2019Article
- Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.Metabolic brain disease · 2019Article
- Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.Clinical genetics · 2019Article
Corrections and comments
- Erratum issued
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.