Article

Neuromuscular Organoids Recapitulate Defective Autophagy in GNE Myopathy and Highlight Therapeutic Rescue by PI3K Inhibition

2025-09-30

Abstract excerpt

<title>Abstract</title> <p> GNE myopathy is a recessive autosomal disease caused by mutations in glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), characterized by impaired sialic acid biosynthesis and the formation of rimmed vacuoles. Similar to other autophagic vacuolar myopathies, defective autophagy has been implicated in disease pathogenesis; however, the underlying molecular mechanis...

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Literature Corpus work: 6d6d89b4-eb6d-5c06-a22a-ce26cf10db52
DOI: 10.21203/rs.3.rs-7441350/v1

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