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An update on autophagy disorders

17 Oct 2024

Abstract excerpt

Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post-mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes, share a common "clinical signature" including neurodevelopmental,...

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PMID: 39420677
DOI: 10.1002/jimd.12798

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