ArticleFrontiers in molecular biosciences2026
Revealing the role of a novel
Article in Frontiers in molecular biosciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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Authors and funding
7 authors.
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Abstract
Introduction: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked lysosomal storage disorder caused by variants in the Methods: The mutation c.1133delA in the Results: Structural analysis revealed deletion of the sulfatase domain 2 (SD2) and disruption of the ligand-binding pocket. Metabolic modeling demonstrated that perturbations were highly localized, affecting only a limited subset of reactions primarily confined to glycosaminoglycan degradation pathways, without detectable impact on core cellular metabolism. The model further predicted accumulation of glycosaminoglycan-related intermediates, consistent with known biochemical hallmarks and clinical manifestations of MPS II. Discussion: This study demonstrates the pathogenicity of the mutation c.1133delA, our findings highlight the value of metabolic network analysis in understanding disease mechanisms and identifying potential therapeutic targets for MPS II.
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Registered trials
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