Browsing Faculty of Medicine by Author "Ellingsen, Ståle"

Now showing items 1-3 of 3

    • Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish 

      Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H.J.; Rolfsnes, Hans Olav; Bindoff, Laurence Albert; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per Morten; Johansson, Stefan; Ellingsen, Ståle (Journal article; Peer reviewed, 2021-09-24)
      The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by STUB1 and promotes ubiquitination of misfolded and damaged proteins. CHIP deficiency has been linked to several diseases, and mutations in ...

    • Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16 

      Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild (Journal article; Peer reviewed, 2021)
      Variants in STUB1 cause both autosomal recessive (SCAR16) and dominant (SCA48) spinocerebellar ataxia. Reports from 18 STUB1 variants causing SCA48 show that the clinical picture includes later-onset ataxia with a cerebellar ...

    • Role of the Neutral Amino Acid Transporter SLC7A10 in Adipocyte Lipid Storage, Obesity and Insulin Resistance 

      Jersin, Regine Åsen; Tallapragada, Divya Sri Priyanka; Madsen, André; Skartveit, Linn; Fjære, Even; McCann, Adrian; Dyer, Laurence; Willems, Aron; Bjune, Jan-Inge; Bjune, Mona Synnøve; Våge, Villy; Nielsen, Hans Jørgen; Thorsen, Håvard Luong; Nedrebø, Bjørn Gunnar; Busch, Christian; Steen, Vidar M.; Blüher, Matthias; Jacobson, Peter; Svensson, Per-Arne; Fernø, Johan; Rydén, Mikael; Arner, Peter; Nygård, Ottar; Claussnitzer, Melina; Ellingsen, Ståle; Madsen, Lise; Sagen, Jørn V.; Mellgren, Gunnar; Dankel, Simon N (Journal article; Peer reviewed, 2021)
      Elucidation of mechanisms that govern lipid storage, oxidative stress, and insulin resistance may lead to improved therapeutic options for type 2 diabetes and other obesity-related diseases. Here, we find that adipose ...