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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman, Yasaman; Sanchez-Guixé, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil; Knappskog, Per M; Johansson, Stefan; Aukrust, Ingvild.
Afiliação
  • Pakdaman Y; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Sanchez-Guixé M; Department of Clinical Science, University of Bergen, Bergen, Norway.
  • Kleppe R; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Erdal S; K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway.
  • Bustad HJ; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
  • Bjørkhaug L; Department of Biomedicine, University of Bergen, Bergen, Norway.
  • Haugarvoll K; Department of Biomedical Laboratory Sciences and Chemical Engineering, Western Norway University of Applied Sciences, Bergen, Norway.
  • Tzoulis C; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
  • Heimdal K; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Knappskog PM; Department of Neurology, Haukeland University Hospital, Bergen, Norway.
  • Johansson S; Department of Clinical Medicine, University of Bergen, Bergen, Norway.
  • Aukrust I; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Biosci Rep ; 37(2)2017 04 30.
Article em En | MEDLINE | ID: mdl-28396517

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Ubiquitina-Proteína Ligases / Estabilidade Proteica / Desdobramento de Proteína / Mutação Limite: Humans Idioma: En Revista: Biosci Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Noruega

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Ubiquitina-Proteína Ligases / Estabilidade Proteica / Desdobramento de Proteína / Mutação Limite: Humans Idioma: En Revista: Biosci Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Noruega