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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...

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Detalles Bibliográficos
Autores principales: Brylski, Oliver, Shrestha, Puja, House, Philip J., Gnutt, Patricia, Mueller, Jonathan Wolf, Ebbinghaus, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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