Ontology highlight
ABSTRACT:
SUBMITTER: Liu Q
PROVIDER: S-EPMC6985407 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 20191001 4
Spinocerebellar ataxia type 17 (SCA17) is caused by polyglutamine (polyQ) expansion in the TATA box-binding protein (TBP), which functions as a general transcription factor. Like other polyQ expansion-mediated diseases, SCA17 is characterized by late-onset and selective neurodegeneration, despite the disease protein being ubiquitously expressed in the body. To date, the pathogenesis of polyQ diseases is not fully understood, and there are no effective treatments for these devastating disorders. ...[more]