Blar i Bergen Open Research Archive på forfatter "St-Louis, Johanna"
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Functional and animal studies of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), a fatty acid beta-oxidation enzyme involved in congenital hyperinsulinism of infancy
St-Louis, Johanna (Doctoral thesis, 2021-02-16)Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) is a mitochondrial enzyme involved in fatty acid β-oxidation and the regulation of β-cell insulin secretion. Its role in insulin secretion became apparent in 2001 when ... -
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro
Velasco Pinto, Kelly; St-Louis, Johanna; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål Rasmus; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line Merethe; Molven, Anders (Journal article; Peer reviewed, 2021)Short‐chain 3‐hydroxyacyl‐CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as ...