Blar i Department of Biomedicine på forfatter "Aukrust, Ingvild"

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    • Dominant ARL3-related retinitis pigmentosa 

      Holtan, Josephine Prener; Teigen, Knut; Aukrust, Ingvild; Bragadottir, Ragnheidur; Houge, Gunnar (Peer reviewed; Journal article, 2019)
      Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). Methods: Clinical examination included optical ...

    • Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes 

      Aukrust, Ingvild; Rosenberg, Linn Andersen; Ankerud, Mia Madeleine; Bertelsen, Vibeke; Hollås, Hanne; Saraste, Jaakko; Grindheim, Ann Kari; Vedeler, Anni (Peer reviewed; Journal article, 2017-02)
      Various post-translational modifications (PTMs) regulate the localisation and function of the multifunctional protein Annexin A2 (AnxA2). In addition to its various tasks as a cytoskeletal- and membrane-associated protein, ...

    • Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants 

      Kind, Laura; Raasakka, Arne; Molnes, Janne; Aukrust, Ingvild; Bjørkhaug, Lise; Njølstad, Pål Rasmus; Kursula, Petri; Arnesen, Thomas (Journal article; Peer reviewed, 2022)
      Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause ...