Article
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.
Genes - 5 Jun 2026
Kılıç Seval, Esmen Kerem, Méreaux Jean-Loup, Oto Ayşe Miray, Kose Tansu Bilge, Sever-Bahcekapili Melike, Eren-Koçak Emine, Demir Şeyda, Hız A Semra, Afzal Erum, Firoozfar Zahra, Karakülah Gökhan, Bagriyanik H Alper, Guillot-Noel Léna, Coarelli Giulia, Houlden Henry, Efthymiou Stephanie, Durr Alexandra, Öztürk Mehmet, Diril M Kasim
Abstract excerpt
BACKGROUND/OBJECTIVES: Autophagy is a highly conserved eukaryotic cellular process whose dysfunction results in human pathologies including cancer and neurodegenerative disease. First identified in yeast, ATG genes are central players in autophagy. Mutations in core autophagy genes ATG5 and ATG7 have been previously reported to cause rare genetic disorders with autosomal recessive inheritance. METHODS: Here we...
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