Ontology highlight
ABSTRACT:
SUBMITTER: Hoem G
PROVIDER: S-EPMC6447689 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Hoem Gry G Bowitz Larsen Kenneth K Øvervatn Aud A Brech Andreas A Lamark Trond T Sjøttem Eva E Johansen Terje T
Frontiers in genetics 20190328
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 to higher toxicity in FXTAS models, the pathogenic effect of this protein has only been studied i ...[more]