Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
DISEASE(S): spinocerebellar ataxia type 1
SUBMITTER: Stephan Perseng
PROVIDER: E-MTAB-852 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Persengiev Stephan S Kondova Ivanela I Bontrop Ronald E RE
Journal of nucleic acids 20121003
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by the expansion of CAG repeats in the ataxin 1 (ATXN1) gene. In affected cerebellar neurons of patients, mutant ATXN1 accumulates in ubiquitin-positive nuclear inclusions, indicating that protein misfolding is involved in SCA1 pathogenesis. In this study, we functionally annotated the target genes of the small noncoding RNAs (ncRNAs) that were selectively activated in the affected brain compartments. The primary targets ...[more]