Article

Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy gene <i>ATG9B</i>

2024-10-29

Abstract excerpt

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. Although their roles in cancer and neurodegenerative disease are well known, Mendelian diseases associated with ATG genes are rare. Mutations in core autophagy genes ATG5 and ATG7 have been...

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Literature Corpus work: 7ad3504c-1d5e-5900-ab66-3391446b477d
DOI: 10.1101/2024.10.28.620020

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