Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions
Yenthe Monnens, Anastasia Theodoropoulou, Karen Rosier, Kritika Bhalla, Alexia Mahy, Roeland Vanhoutte, Sandra M.P. Meulemans, Edoardo Cavani, Aleksandar Antanasijevic, Irma H. Lemmens, Jennifer A. Lee, C. J. Spellicy, Richard J. Schroer, Richardo A. Maselli, Chamindra G. Laverty, , John W.M. Creemers
The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.
bioRxiv · Dec 18, 2023 · PreprintGenetics