Ontology highlight
ABSTRACT:
SUBMITTER: McCullough SD
PROVIDER: S-EPMC3535616 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
McCullough Shaun D SD Xu Xiaojiang X Dent Sharon Y R SY Bekiranov Stefan S Roeder Robert G RG Grant Patrick A PA
Proceedings of the National Academy of Sciences of the United States of America 20121210 52
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder that results from polyglutamine expansion of the ataxin-7 (ATXN7) protein. Remarkably, although mutant ATXN7 is expressed throughout the body, pathology is restricted primarily to the cerebellum and retina. One major goal has been to identify factors that contribute to the tissue specificity of SCA7. Here we describe the development and use of a human astrocyte cell culture model to identify reelin, a factor ...[more]