Melad Henis, Tabitha Rücker, Robin Scharrenberg, Melanie Richter, Lucas Baltussen, Shuai Hong, Durga Praveen Meka, Birgit Schwanke, Nagammal Neelagandan, Danie Daaboul, Nadeem Murtaza, Christoph Krisp, Sönke Harder, Hartmut Schlüter, Matthias Kneussel, Irm Hermans-Borgmeyer, Joris de Wit, Karun K Singh, Kent E Duncan, Froylan Calderón de Anda
Genes implicated in translation control have been associated with autism spectrum disorders (ASDs). However, some important genetic causes of autism, including the 16p11.2 microdeletion, bear no obvious connection to translation. Here, we use proteomics, genetics, and translation assays in cultured cells and mouse brain to reveal altered translation mediated by loss of the kinase TAOK2 in 16p11.2 deletion models. We show that TAOK2 associates with the translational machinery and functions as a translational brake by phosphorylating eukaryotic elongation factor 2 (eEF2)...
April 12, 2024: Science Advances