Browsing ODA Open Digital Archive by Author "Mørk Sandås, Elise"

Now showing items 1-2 of 2

    • A monoallelic UXS1 variant associated with short-limbed short stature 

      Rustad, Cecilie F.; Backe, Paul Hoff; Jin, Chunsheng; Merckoll, Else; Tveten, Kristian; Maciej-Hulme, Marissa Lucy; Karlsson, Niclas; Prescott, Trine; Mørk Sandås, Elise; Woldseth, Berit; Elgstøen, Katja B. Prestø; Holla, Øystein Lunde (Peer reviewed; Journal article, 2024)
      Background: Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP-glucuronate decarboxylase 1, which catalyzes ...

    • A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics 

      Skogvold, Hanne Bendiksen; Yazdani, Mazyar; Mørk Sandås, Elise; Østeby, Anja; Kristensen, Erle; Haarr, Dagfinn; Rootwelt, Helge; Elgstøen, Katja B. Prestø (Peer reviewed; Journal article, 2021)
      The neurotoxin 3-nitropropionic acid (3-NPA) is an inhibitor of succinate dehydrogenase, an enzyme participating both in the citric acid cycle and the mitochondrial respiratory chain. In human intoxications, it produces ...