CORDIS Project
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This research focuses on the role of sulfated biomolecules and their synthesis in human health. It investigates the function of specific enzymes involved in sulfate metabolism and their implications for various diseases linked to genetic mutations.
Sulfated biomolecules are omnipresent in biology.
Highly diverse biomolecules are sulfated by an armada of sulfotransferases that depend on provision of active sulfate in the form of 3’-phospho-adenosine-5’-phosphosulfate (PAPS) for action.
In humans, PAPS is exclusively provided by the two bifunctional PAPS synthases PAPSS1 and PAPSS2. A growing number of studies report patients with various mutations in the PAPSS2 gene with clinical phenotypes ranging from bone and cartilage mal-formations to…
THE UNIVERSITY OF BIRMINGHAM
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