Ontology highlight
ABSTRACT:
SUBMITTER: Wagner JL
PROVIDER: S-EPMC4981596 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Wagner Jacob L JL O'Connor Deirdre M DM Donsante Anthony A Boulis Nicholas M NM
Frontiers in molecular neuroscience 20160812
Spinocerebellar ataxia 1 is an autosomal dominant disease characterized by neurodegeneration and motor dysfunction. In disease pathogenesis, polyglutamine expansion within Ataxin-1, a gene involved in transcriptional repression, causes protein nuclear inclusions to form. Most notably, neuronal dysfunction presents in Purkinje cells. However, the effect of mutant Ataxin-1 is not entirely understood. Two mouse models are employed to represent spinocerebellar ataxia 1, a B05 transgenic model that s ...[more]