Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation

Abstract The autophagy-tethering factor ectopic P-granule 5 autophagy protein (EPG5) plays a key role in autophagosome-lysosome fusion. Impaired autophagy associated with pathogenic variants in EPG5 causes a rare devastating multisystem disorder known as Vici syndrome, which features neurodevelopmen...

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Bibliografiske detaljer

Principais autores:	Kritarth Singh, Hormos Salimi Dafsari, Olivia Gillham, Haoyu Chi, Ivet Mandzhukova, Ioanna Kourouzidou, Preethi Sheshadri, Chih-Yao Chung, Valeria Pingitore, Fleur Vansenne, David L. Selwood, Diana Pendin, Gyorgy Szabadkai, Manolis Fanto, Heinz Jungbluth, Michael R. Duchen
Format:	Artigo
Sprog:	Inglês
Udgivet:	Nature Portfolio 2026-05-01
Serier:	Nature Communications
Online adgang:	https://doi.org/10.1038/s41467-026-73538-7
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