Ágota Apáti

This study shows KCNQ1 regulates human neuronal development by affecting cell adhesion, mitochondrial function, and insulin signalling pathways.

The paper uses human ectodermal organoids to study DiGeorge Syndrome, showing defects in neural crest development and identifying key genes involved.

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.