Deciphering Neuronal Deficit and Protein Profile Changes in Human Brain Organoids from Patients with Creatine Transporter Deficiency
Léa Broca-Brisson, Rania Harati, Clémence Disdier, Orsolya Mózner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balázs Sarkadi, Ágota Apáti, Matthew R. Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse M Mabondzo
This study uses human brain organoids to show that restoring SLC6A8 function in CTD patients normalizes protein expression and creatine uptake, suggesting potential therapeutic targets for CTD.
bioRxiv · Jun 1, 2023 · PreprintNeuroscience