ArticleJournal of molecular biology2012
The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.
Article in Journal of molecular biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 112 citations in OpenAlex.
- Comprehensive characterization and translational implications of the GalnsJournal of human genetics · 2026Article
- Morquio Syndrome for Aortic Valve Replacement: Anesthesia Concerns - A Case Report.Annals of cardiac anaesthesia · 2026Article
- Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.Disease models & mechanisms · 2026Article
- rhGALNS Enzyme Stability in Physiological Buffers: Implications for Sustained Release.Applied biochemistry and biotechnology · 2025Article
- Exomeres and supermeres: Current advances and perspectives.Bioactive materials · 2025Review
- Exploring Multivalent Architectures for Binding and Stabilization ofMolecules (Basel, Switzerland) · 2025Article
- CRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.International journal of molecular sciences · 2025Article
- Review
- Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.JMIR research protocols · 2024Article
- Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineeredHeliyon · 2024Article
- Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.International journal of molecular sciences · 2023Review
- Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.Molecular syndromology · 2023Article
- Identification of galactosamine-(N-acetyl)-6-sulfatase (GALNS) as a novel therapeutic target in progression of nasopharyngeal carcinoma.Discover oncology · 2023Article
- Primary Processes of Free Radical Formation in Pharmaceutical Formulations of Therapeutic Proteins.Biomolecules · 2023Review
- Blood RNA alternative splicing events as diagnostic biomarkers for infectious disease.Cell reports methods · 2023Article
- Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA.Gene therapy · 2023Article
- CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors.International journal of molecular sciences · 2022Article
- Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles.Scientific reports · 2022Article
- RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.Molecular genetics and metabolism reports · 2022Article
- Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).Frontiers in cell and developmental biology · 2022Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Lysosomal enzymes catalyze the breakdown of macromolecules in the cell. In humans, loss of activity of a lysosomal enzyme leads to an inherited metabolic defect known as a lysosomal storage disorder. The human lysosomal enzyme galactosamine-6-sulfatase (GALNS, also known as N-acetylgalactosamine-6-sulfatase and GalN6S; E.C. 3.1.6.4) is deficient in patients with the lysosomal storage disease mucopolysaccharidosis IV A (also known as MPS IV A and Morquio A). Here, we report the three-dimensional structure of human GALNS, determined by X-ray crystallography at 2.2Å resolution. The structure reveals a catalytic gem diol nucleophile derived from modification of a cysteine side chain. The active site of GALNS is a large, positively charged trench suitable for binding polyanionic substrates such as keratan sulfate and chondroitin-6-sulfate. Enzymatic assays on the insect-cell-expressed human GALNS indicate activity against synthetic substrates and inhibition by both substrate and product. Mapping 120 MPS IV A missense mutations onto the structure reveals that a majority of mutations affect the hydrophobic core of the structure, indicating that most MPS IV A cases result from misfolding of GALNS. Comparison of the structure of GALNS to paralogous sulfatases shows a wide variety of active-site geometries in the family but strict conservation of the catalytic machinery. Overall, the structure and the known mutations establish the molecular basis for MPS IV A and for the larger MPS family of diseases.
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