ArticleActa crystallographica. Section D, Biological crystallography2014
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.
Article in Acta crystallographica. Section D, Biological crystallography, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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.
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Who cites it
21 citing papers in PubMed, 37 citations in OpenAlex.
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- VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.Computational and structural biotechnology journal · 2025Article
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- Sulfated glycan recognition by carbohydrate sulfatases of the human gut microbiota.Nature chemical biology · 2022Article
- Structural insights into choline-O-sulfatase reveal the molecular determinants for ligand binding.Acta crystallographica. Section D, Structural biology · 2022Article
- An EngineeredInternational journal of molecular sciences · 2021Article
- A Natural Antimicrobial Agent: Analysis of Antibacterial Effect and Mechanism of Compound Phenolic Acid onFrontiers in microbiology · 2021Article
- Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats.Molecular genetics and metabolism reports · 2020Article
- Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA.Metabolic brain disease · 2019Article
- Structural and Functional Characterization of the BcsG Subunit of the Cellulose Synthase in Salmonella typhimurium.Journal of molecular biology · 2018Article
- A novel mutation in SGSH causing Sanfillipo type 3A Mucopolysaccharidoses in an Indian family.Molecular genetics and metabolism reports · 2018Article
- Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.Annals of neurology · 2017Article
- Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.World journal of pediatrics : WJP · 2017Article
- Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.Nature communications · 2017Article
- Insights into the Mechanistic Basis of Plasmid-Mediated Colistin Resistance from Crystal Structures of the Catalytic Domain of MCR-1.Scientific reports · 2017Article
- Enzyme-Assisted Preparation of Furcellaran-Like κ-/β-Carrageenan.Marine biotechnology (New York, N.Y.) · 2016Article
- Article
- Formylglycine, a post-translationally generated residue with unique catalytic capabilities and biotechnology applications.ACS chemical biology · 2015Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and skeletal abnormalities, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase). More than 100 mutations in the SGSH gene have been found to reduce or eliminate its enzymatic activity. However, the molecular understanding of the effect of these mutations has been confined by a lack of structural data for this enzyme. Here, the crystal structure of glycosylated SGSH is presented at 2 Å resolution. Despite the low sequence identity between this unique N-sulfatase and the group of O-sulfatases, they share a similar overall fold and active-site architecture, including a catalytic formylglycine, a divalent metal-binding site and a sulfate-binding site. However, a highly conserved lysine in O-sulfatases is replaced in SGSH by an arginine (Arg282) that is positioned to bind the N-linked sulfate substrate. The structure also provides insight into the diverse effects of pathogenic mutations on SGSH function in mucopolysaccharidosis type IIIA and convincing evidence for the molecular consequences of many missense mutations. Further, the molecular characterization of SGSH mutations will lay the groundwork for the development of structure-based drug design for this devastating neurodegenerative disorder.
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