{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Scoles DR"],"funding":["NINDS NIH HHS"],"pagination":["5048-65"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3490512"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["21(23)"],"pubmed_abstract":["Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the expansion of a CAG tract in the ATXN2 gene. The SCA2 phenotype is characterized by cerebellar ataxia, neuropathy and slow saccades. SCA2 foreshortens life span and is currently without symptomatic or disease-modifying treatments. Identifying function-specific therapeutics for SCA2 is problematic due to the limited knowledge of ATXN2 function. As SCA2 is likely caused by a gain-of-toxic or gain-of-normal function like other polyglutamine disorders, targeting ATXN2 expression may represent a valid therapeutic approach. This study characterized aspects of ATXN2 expression control using an ATXN2 promoter-luciferase (luc) reporter construct. We verified the fidelity of construct expression by generating transge"],"journal":["Human molecular genetics"],"pubmed_title":["ETS1 regulates the expression of ATXN2."],"pmcid":["PMC3490512"],"funding_grant_id":["R01NS033123","RC4NS073009"],"pubmed_authors":["Scoles DR","Pflieger LT","Hansen ST","Thai KK","Dansithong W","Pulst SM"],"additional_accession":[]},"is_claimable":false,"name":"ETS1 regulates the expression of ATXN2.","description":"Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the expansion of a CAG tract in the ATXN2 gene. The SCA2 phenotype is characterized by cerebellar ataxia, neuropathy and slow saccades. SCA2 foreshortens life span and is currently without symptomatic or disease-modifying treatments. Identifying function-specific therapeutics for SCA2 is problematic due to the limited knowledge of ATXN2 function. As SCA2 is likely caused by a gain-of-toxic or gain-of-normal function like other polyglutamine disorders, targeting ATXN2 expression may represent a valid therapeutic approach. This study characterized aspects of ATXN2 expression control using an ATXN2 promoter-luciferase (luc) reporter construct. We verified the fidelity of construct expression by generating transge","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Dec","modification":"2026-05-03T04:46:08.378Z","creation":"2019-03-27T01:00:02Z"},"accession":"S-EPMC3490512","cross_references":{"pubmed":["22914732"],"doi":["10.1093/hmg/dds349"]}}