Ontology highlight
ABSTRACT:
SUBMITTER: Ramachandran PS
PROVIDER: S-EPMC3997397 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Ramachandran Pavitra S PS Bhattarai Sajag S Singh Pratibha P Boudreau Ryan L RL Thompson Stewart S Laspada Albert R AR Drack Arlene V AV Davidson Beverly L BL
PloS one 20140423 4
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disease characterized by loss of motor coordination and retinal degeneration with no current therapies in the clinic. The causative mutation is an expanded CAG repeat in the ataxin-7 gene whose mutant protein product causes cerebellar and brainstem degeneration and retinal cone-rod dystrophy. Here, we reduced the expression of both mutant and wildtype ataxin-7 in the SCA7 mouse retina by RNA interference and evaluate ...[more]