Human models of GLE1 associated LCCS1 reveal neural crest deficiency and multisystem developmental failure accompanied by altered RNA metabolism
Tomáš Zárybnický, O. Mäkelä, Athina Balatsou, Sule R Yalcin, Sonja Lindfors, Saana Metso, Rocio Sartori-Maldonado, Pavlína Gregorová, Juho Väänänen, Laura Rekonen, Kateřina Bútorová, L. Peter Sarin, Kirmo Wartiovaara, Henna Tyynismaa, Niklas A. Pakkasjärvi, Satu Kuure
This study uses human stem cells and tissues to investigate LCCS1, revealing impaired RNA metabolism and developmental defects in neural crest and neuromuscular systems.
bioRxiv · May 29, 2026 · PreprintDevelopmental Biology