Article

Bi-allelic <i>ATG12</i> variants impair autophagy and cause a neurodevelopmental disorder

2025-10-31

Abstract excerpt

Macroautophagy/autophagy is an essential developmental and homeostatic process, defined by the endolysosomal degradation of intracellular components and pathogens. Dysfunctional autophagy is implicated in complex human disease, yet reports of congenital autophagy disorders were considered exceedingly rare until the recent report of several unrelated families with bi-allelic variants in ATG7 , encoding a core auto...

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Literature Corpus work: a8eb78db-177e-5202-8cde-abebfa6210c9
DOI: 10.1101/2025.10.30.25338537

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