Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy gene ATG9B
Seval Kılıç, Kerem Esmen, Jean‐Loup Méreaux, Ayşe Miray Oto, Tansu Bilge Kose, Melike Sever, Emine Eren‐Koçak, Şeyda Demir, A. Semra Hız, Erum Afzal, Zahra Firoozfar, Gökhan Karakülah, H. Alper BAGRIYANIK, Léna Guillot‐Noël, Giulia Coarelli, , M. Kasim Diril
The paper reports a novel neurodevelopmental disorder caused by a frameshift mutation in ATG9B, and characterizes its effects using cell models and knock-in mice.
Genes · Jun 5, 2026Peer-reviewedGenetics