ArticleJournal of inherited metabolic disease2007
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.
Article in Journal of inherited metabolic disease, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.Genes · 2025Review
- Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks.International journal of molecular sciences · 2023Review
- Mucopolysaccharidosis Type IVA: Extracellular Matrix Biomarkers in Cardiovascular Disease.Frontiers in cardiovascular medicine · 2022Article
- Bilateral Perthes Masking Morquio Disease.Journal of orthopaedic case reports · 2021Article
- Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.Nature communications · 2021Article
- Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts.Stem cell research & therapy · 2021Article
- Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.Molecular genetics and metabolism reports · 2020Article
- A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.Heliyon · 2020Review
- Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA.Journal of medicinal chemistry · 2019Article
- Bio-Plex immunoassay measuring the quantity of lysosomalBMJ open · 2017Article
- Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.Diagnostic pathology · 2016Article
- Non-invasive pulmonary function test on Morquio patients.Molecular genetics and metabolism · 2015Article
- Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.Molecular biology reports · 2014Article
- Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.Molecular genetics and metabolism · 2014Article
- Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Journal of inherited metabolic disease · 2013Article
- Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype.Case reports in medicine · 2013Article
- Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21.Journal of industrial microbiology & biotechnology · 2010Article
- Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.Molecular genetics and metabolismArticle
- Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.Molecular genetics and metabolismReview
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed for seven MPS IVA patients with attenuated phenotypes from three unrelated families. Four of 5 missense mutations identified in this study (p.F167V, p.R253W, p.R380S, p.P484S) and two reported (p.F97V, p.N204K), associated with attenuated phenotypes, were characterized using in vitro stable expression experiments, enzyme kinetic study, protein processing and structural analysis. The stably expressed mutant enzymes defining the attenuated phenotype exhibited a considerable residual activity (1.2-36.7% of the wild-type GALNS activity) except for p.R380S. Enzyme kinetic studies showed that p.F97V, p.F167V and p.N204K have lower affinity to the substrate compared with other mutants. The p.F97V enzyme was the most thermolabile at 55 degrees C. Immunoblot analyses indicated a rapid degradation and/or an insufficiency in processing in the mutant proteins. Tertiary structure analysis revealed that although there was a tendency for 'attenuated' mutant residues to be located on the surface of GALNS, they have a different effect on the protein including modification of the hydrophobic core and salt-bridge formation and different potential energy. This study demonstrates that 'attenuated' mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure.
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