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An autism spectrum disorder mutation in Topoisomerase 3beta causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain.

Warrick JE, Attili D, van Eeuwen T, Pastore B, Hoffmann-Weitsman SE, Forsyth NC, Tang W, Barmada SJ, Kearse MG
Nucleic Acids Res. 2025 Oct 28;53(20):gkaf1138. doi: 10.1093/nar/gkaf1138. (Link opens in a new window) PubMed (Link opens in a new window) Article

Plasmids from Article

ID Plasmid Purpose
249681pCMV6-TOP3B (WT)-3xFLAGExpresses human TOP3B (wildtype) with a C-terminal 3xFLAG tagged in mammalian cells
249682pCMV6-TOP3B (Y336F)-3xFLAGExpresses human TOP3B (Y336F; catalytically inactive mutant) with a C-terminal 3xFLAG tag in mammalian cells
249683pCMV6-TOP3B (R338W)-3xFLAGExpresses human TOP3B (R338W; "self-trapping" mutant) with a C-terminal 3xFLAG tag in mammalian cells

Antibodies from Article