Blar i forfatter "Hoem, Gry"

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    • The FMRpolyGlycine protein mediates aggregate formation and toxicity independent of the CGG mRNA hairpin in a cellular model for FXTAS 

      Hoem, Gry; Larsen, Kenneth Bowitz; Øvervatn, Aud Karin; Brech, Andreas; Lamark, Trond; Sjøttem, Eva; Johansen, Terje (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-03-28)
      Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a CGG-repeat expansion in the 5′ UTR of the FMR1 gene on the X-chromosome. Both elevated levels of the expanded FMR1 mRNA and aberrant expression of a polyglycine protein (FMRpolyG) from the CGG-repeat region are hypothesized to trigger the pathogenesis of FXTAS. While increased expression of FMRpolyG leads ...

    • Fragile X and autism : intertwined at the molecular level leading to targeted treatments 

      Hoem, Gry (Master thesis; Mastergradsoppgave, 2012-06)
      Fragile X syndrome (FXS) is caused by an expanded CGG repeat (>200 repeats) in the 5’ un-translated portion of the fragile mental retardation 1 gene (FMR1) leading to deficiency or absence of the FMR1 protein (FMRP). FMRP is an RNA carrier protein that controls the translation of a number of other genes that regulate synaptic development and plasticity. Autism occurs in approximately 30% of FXS ...

    • Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene 

      Müller, Kai Ivar; Nilssen, Øivind; Nebuchenykh, Maria; Løseth, Sissel; Jonsrud, Christoffer; Hoem, Gry; Van Ghelue, Marijke; Arntzen, Kjell Arne (Journal article; Tidsskriftartikkel; Peer reviewed, 2021-10-19)
      We present a retrospective 21-year follow-up of two sisters with X-linked biallelic CAG expansions in the androgen receptor (AR) gene causing Kennedy disease. Two sisters inherited CAG expansions from their mother who was a carrier and their father who had Kennedy disease. Genetic testing revealed alleles comprising 43/45, and 43/43 CAG repeats in the younger and older sister, respectively. They ...

    • Triggering mechanisms in the molecular pathogenesis of FXTAS 

      Hoem, Gry (Doctoral thesis; Doktorgradsavhandling, 2018-10-31)
      This study focuses on the triggering mechanisms leading to development of the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects carriers of a “premutation” in the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome. A premutation in this context, means the presence of 55-200 CGG repeats in the 5’untranslated region of the gene. Unaffected ...