2023
DOI: 10.1101/2023.07.21.550051
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Length-dependent RNA foci formation and RAN translation are associated with SCA12 disorder

Abstract: Spinocerebellar ataxia type-12 (SCA-12) is a neurodegenerative disease that exhibits a unique progressive tremor/ataxia syndrome caused by a triplet (CAG) repeat expansion in the 5' UTR region of PPP2R2B. So far, no study has been done to investigate the pathological hallmarks using the appropriate disease model. Therefore, we aimed to establish human iPSC-derived SCA12 neuronal cell lines to study the cellular pathological mechanisms induced by CAG expansion. We found that expanded CAG in PPP2R2B transcript c… Show more

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