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Disease-Related Protein Variants of the Highly Conserved Enzyme PAPSS2 Show Marginal Stability and Aggregation in Cells
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...
Autores principales: | Brylski, Oliver, Shrestha, Puja, House, Philip J., Gnutt, Patricia, Mueller, Jonathan Wolf, Ebbinghaus, Simon |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024126/ https://www.ncbi.nlm.nih.gov/pubmed/35463959 http://dx.doi.org/10.3389/fmolb.2022.860387 |
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