Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome
Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Katherine Johnson, Safa Barış, Brandon A. Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jiménez Heredia, Elif Karakoç-Aydıner, Ahmet Oguzhan Ozen, , Ashleigh E. Schaffer
This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.
bioRxiv · Sep 6, 2022 · PreprintMolecular Biology