The sleep quality- and myopia-linked PDE11A-Y727C variant impacts neural physiology by reducing catalytic activity and altering subcellular compartmentalization of the enzyme
Irina Sbornova, Emilie van der Sande, Snezana Milosavljevic, Elvis Amurrio, Steven D. Burbano, Prosun Das, H. Helen, Janet L. Fisher, Porschderek Kargbo, Janvi Patel, Latarsha Porcher, Chris I. De Zeeuw, Magda A. Meester‐Smoor, Beerend H. J. Winkelman, Caroline C. W. Klaver, , Michy P. Kelly
This paper investigates the impact of the PDE11A-Y727C variant on neural physiology, showing reduced catalytic activity and altered subcellular compartmentalization without significant effects on eye growth or sleep quality.
Cells · Dec 14, 2023Peer-reviewedNeuroscience