Ontology highlight
ABSTRACT:
SUBMITTER: Pflieger LT
PROVIDER: S-EPMC5886232 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Pflieger Lance T LT Dansithong Warunee W Paul Sharan S Scoles Daniel R DR Figueroa Karla P KP Meera Pratap P Otis Thomas S TS Facelli Julio C JC Pulst Stefan M SM
Human molecular genetics 20170801 16
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene. The repeat resides in an encoded region of the gene resulting in polyglutamine (polyQ) expansion which has been assumed to result in gain of function, predominantly, for the ATXN2 protein. We evaluated temporal cerebellar expression profiles by RNA sequencing of ATXN2Q127 mice versus wild-type (WT) littermates. ATXN2Q127 mice are characterized by a progressive ...[more]