ArticleNature communications2017
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed.
- The Association of Gut Microbiota With TRPM7 Genotype, Colorectal Polyps, and Magnesium.The Journal of nutrition · 2025Trial
- Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.Molecular genetics and metabolismTrial
- Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.Molecular genetics and metabolismTrial
- RNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation.The FEBS journal · 2026Article
- Synthesis of a C-2 Functionalized l-Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome).Chemistry, an Asian journal · 2026Article
- Revealing the role of a novelFrontiers in molecular biosciences · 2026Article
- Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Human genomics · 2024Review
- Review
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Boolean Modeling of Biological Network Applied to Protein-Protein Interaction Network of Autism Patients.Biology · 2024Article
- Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential.Cell death & disease · 2024Article
- Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease.Nature immunology · 2024Article
- Primary Processes of Free Radical Formation in Pharmaceutical Formulations of Therapeutic Proteins.Biomolecules · 2023Review
- Multifaceted Approach for Quantification and Enzymatic Activity of Iduronate-2-Sulfatase to Support Developing Gene Therapy for Hunter Syndrome.The AAPS journal · 2023Article
- A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation.Scientific reports · 2023Article
- Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.Frontiers in genetics · 2023Article
- Structural insights into choline-O-sulfatase reveal the molecular determinants for ligand binding.Acta crystallographica. Section D, Structural biology · 2022Article
- Molecular architecture determines brain delivery of a transferrin receptor-targeted lysosomal enzyme.The Journal of experimental medicine · 2022Article
- iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.Experimental cell research · 2022Article
- Physiology and Pathophysiology of Heparan Sulfate in Animal Models: Its Biosynthesis and Degradation.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Hunter syndrome is a rare but devastating childhood disease caused by mutations in the IDS gene encoding iduronate-2-sulfatase, a crucial enzyme in the lysosomal degradation pathway of dermatan sulfate and heparan sulfate. These complex glycosaminoglycans have important roles in cell adhesion, growth, proliferation and repair, and their degradation and recycling in the lysosome is essential for cellular maintenance. A variety of disease-causing mutations have been identified throughout the IDS gene. However, understanding the molecular basis of the disease has been impaired by the lack of structural data. Here, we present the crystal structure of human IDS with a covalently bound sulfate ion in the active site. This structure provides essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes. Understanding the structural consequences of disease-associated mutations will facilitate the identification of patients that may benefit from specific tailored therapies.
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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.