Browsing Bergen Open Research Archive by Author "Kulkarni, Rohit N."

Now showing items 1-3 of 3

    • Deficiency of the metabolic enzyme SCHAD in pancreatic β-cells promotes amino acid–sensitive hypoglycemia 

      St-Louis, Johanna L.; el Jellas, Khadija; Velasco, Kelly; Slipp, Brittany A.; Hu, Jiang; Helgeland, Geir; Steine, Solrun; De Jesus, Dario F.; Kulkarni, Rohit N.; Molven, Anders (Journal article; Peer reviewed, 2023)
      Congenital hyperinsulinism of infancy (CHI) can be caused by a deficiency of the ubiquitously expressed enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD). To test the hypothesis that SCHAD-CHI arises from a specific ...

    • HNF4A haploinsufficiency in MODY1 abrogates liver and pancreas differentiation from patient-derived induced pluripotent stem cells 

      Ng, Natasha Hui Jin; Jasmen, Joanita Binte; Lim, Chang Siang; Lau, Hwee Hui; Krishnan, Vidhya Gomathi; Kadiwala, Juned; Kulkarni, Rohit N.; Ræder, Helge; Vallier, Ludovic; Hoon, Shawn; Teo, Adrian Kee Keong (Peer reviewed; Journal article, 2019-06-28)
      Maturity-onset diabetes of the young 1 (MODY1) is a monogenic diabetes condition caused by heterozygous HNF4A mutations. We investigate how HNF4A haploinsufficiency from a MODY1/HNF4A mutation influences the development ...

    • Leptin receptor signaling regulates protein synthesis pathways and neuronal differentiation in pluripotent stem cells 

      Gupta, Manoj K.; Vethe, Heidrun; Softic, Samir; Rao, Tata Nageswara; Wagh, Vilas; Shirakawa, Jun; Barsnes, Harald; Vaudel, Marc; Takatani, Tomozumi; Kahraman, Sevim; Sakaguchi, Masaji; Martinez, Rachael; Hu, Jiang; Bjørlykke, Yngvild; Ræder, Helge; Kulkarni, Rohit N. (Journal article; Peer reviewed, 2020)
      The role of leptin receptor (OB-R) signaling in linking pluripotency with growth and development and the consequences of dysfunctional leptin signaling on progression of metabolic disease is poorly understood. Using a ...