{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhou C"],"funding":["National Ataxia Foundation","NINDS NIH HHS","National Institutes of Health","NIGMS NIH HHS","NIH HHS"],"pagination":["2230-2240"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10840700"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38(12)"],"pubmed_abstract":["<h4>Background</h4>Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.<h4>Objective</h4>In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis.<h4>Methods</h4>Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction. The tendency of expanded PPP2R2B-AS1 (expPPP2R2B-AS1) RNA to form foci, a marker of toxic processes involving mutant RNAs, was examined in SCA12 cell models by fluorescence in situ hybridization. The apoptotic effect of"],"journal":["Movement disorders : official journal of the Movement Disorder Society"],"pubmed_title":["Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12."],"pmcid":["PMC10840700"],"funding_grant_id":["NS112687","GM136897","R21 NS112796","NS113820","R21 NS112687","R01 NS122756","R01 GM136897","NS093287","R21 NS093287","NS122756","RF1 NS113820","NS112796"],"pubmed_authors":["Margolis RL","Zhou C","Wu B","Deng L","Jahanbakhsh F","Ying M","Li PP","Liu HB"],"additional_accession":[]},"is_claimable":false,"name":"Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.","description":"<h4>Background</h4>Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.<h4>Objective</h4>In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis.<h4>Methods</h4>Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction. The tendency of expanded PPP2R2B-AS1 (expPPP2R2B-AS1) RNA to form foci, a marker of toxic processes involving mutant RNAs, was examined in SCA12 cell models by fluorescence in situ hybridization. The apoptotic effect of","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Dec","modification":"2025-04-04T01:18:01.728Z","creation":"2025-04-04T01:18:01.728Z"},"accession":"S-EPMC10840700","cross_references":{"pubmed":["37735923"],"doi":["10.1002/mds.29605"]}}