Disease-causing mutations in the G protein β5 β-propeller disrupt its chaperonin-mediated folding trajectory
Mikaila Sass, Deirdre Mack, Riley A. Nickles, Caelen A. Jones, Jesus N. Ramirez Torres, Aaron M. Wilson, Rex L. Brunsdale, Cecilia S. Sanders, Samuel L. Cottam, Liam J. Moss, Stefano Maggi, Peter S Shen, Barry M. Willardson
This study uses cryo-EM and biochemistry to show how disease-causing mutations in Gβ5 disrupt its folding by CCT, leading to trapped intermediates and neurological disease.
bioRxiv · May 28, 2025 · PreprintBiochemistry