Length-dependent RNA foci formation and RAN translation are associated with SCA12 disorder
Manish Kumar, Shweta Sahni, Vivek Anand, Deepak Kumar, Neetu Singh Kushwah, Divya Goel, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq
This study identifies molecular signatures of SCA12 by analyzing patient-derived neuronal cell lines and shows CAG repeat expansion leads to RNA foci and RAN translation.
bioRxiv · Jul 21, 2023 · PreprintNeuroscience