ArticleFrontiers in molecular biosciences2022
Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells.
Article in Frontiers in molecular biosciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 9 citations in OpenAlex.
- Reclassification ofMedicina (Kaunas, Lithuania) · 2026Article
- Structural insights into interdomain interactions inJournal of structural biology: X · 2026Article
- PHASE SEPARATION TUNES THE STABILITY AND DYNAMICS OF G-QUADRUPLEX AND I-MOTIF DNA IN THE NUCLEI OF LIVING CELLS.bioRxiv : the preprint server for biology · 2025Article
- Ramping up the Heat: Induction of Systemic and Pulmonary Immune Responses and Metabolic Adaptations in Mice.bioRxiv : the preprint server for biology · 2025Article
- Sulfation pathways in the maintenance of functional beta-cell mass and implications for diabetes.Essays in biochemistry · 2024Review
- Heat application in live cell imaging.FEBS open bio · 2024Review
- Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.BioMed research international · 2024Article
- Adenylyl-Sulfate Kinase (Met14)-Dependent Cysteine and Methionine Biosynthesis Pathways Contribute Distinctively to Pathobiological Processes in Cryptococcus neoformans.Microbiology spectrum · 2023Article
- CAG-Repeat RNA Hairpin Folding and Recruitment to Nuclear Speckles with a Pivotal Role of ATP as a Cosolute.Journal of the American Chemical Society · 2023Article
- A Missense Mutation (c.1037 G > C, p. R346P) inGenes · 2022Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cellular sulfation pathways rely on the activated sulfate 3'-phosphoadenosine-5'-phosphosulfate (PAPS). In humans, PAPS is exclusively provided by the two PAPS synthases PAPSS1 and PAPSS2. Mutations found in the PAPSS2 gene result in severe disease states such as bone dysplasia, androgen excess and polycystic ovary syndrome. The APS kinase domain of PAPSS2 catalyzes the rate-limiting step in PAPS biosynthesis. In this study, we show that clinically described disease mutations located in the naturally fragile APS kinase domain are associated either with its destabilization and aggregation or its deactivation. Our findings provide novel insights into possible molecular mechanisms that could give rise to disease phenotypes associated with sulfation pathway genes.
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