A condensate forming tether for lariat debranching enzyme is defective in non-photosensitive trichiothiodystrophy
B. A. Townley, L. Buerer, A. Bacolla, T. Rusanov, N. Schmidt, S. N. Srivatsan, N. E. Clark, F. Mansoori, R. A. Sample, J. R. Brickner, D. McDonald, M.-S. Tsai, M. Walter, D. F. Wozniak, A. S. Holehouse, , N. Mosammaparast
This study identifies TTDN1's role in linking intron lariat processing to the spliceosome, showing its defect causes splicing and gene expression issues in NP-TTD.
bioRxiv · Nov 3, 2022 · PreprintBiochemistry