ArticleMolecular biology reports2014
Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineeredHeliyon · 2024Article
- Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA.Scientific reports · 2024Article
- Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile.Molecular syndromology · 2023Article
- RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A.Molecular genetics and metabolism reports · 2022Article
- Article
- Bromocriptine as a Novel Pharmacological Chaperone for Mucopolysaccharidosis IV A.ACS medicinal chemistry letters · 2020Article
- A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.Heliyon · 2020Review
- Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.International journal of molecular sciences · 2020Review
- Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.International journal of molecular sciences · 2019Review
- Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.Journal of medicinal chemistry · 2019Article
- Review
- Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.Orphanet journal of rare diseases · 2018Review
- Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.Journal of diabetes and metabolic disorders · 2017Article
- Recombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis IV A (MPS IV A) is a lysosomal storage disease produced by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme. Although genotype-phenotype correlations have been reported, these approaches have not enabled to establish a complete genotype-phenotype correlation, and they have not considered a ligand-enzyme interaction. In this study, we expanded the in silico evaluation of GALNS mutations by using several bioinformatics tools. Tertiary GALNS structure was modeled and used for molecular docking against galactose-6-sulfate, N-acetylgalactosamine-6-sulfate, keratan sulfate, chondroitin-6-sulfate, and the artificial substrate 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate. Furthermore, we considered the evolutionary residue conservation, change conservativeness, position within GALNS structure, and the impact of amino acid substitution on the structure and function of GALNS. Molecular docking showed that amino acids involved in ligand interaction correlated with those observed in other human sulfatases, and mutations within the active cavity reduced affinity of all evaluated ligands. Combination of several bioinformatics approaches allowed to explaine 90% of the missense mutations affecting GALNS, and the prediction of the phenotype for another 21 missense mutations. In summary, we have shown for the first time a docking evaluation of natural and artificial ligands for human GALNS, and proposed an update in genotype-phenotype correlation for Morquio A, based on the use of multiple parameters to predict the disease severity.
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