Article

Serglycin as a Preliminary Candidate Biomarker in GNE Myopathy Associated with Impaired Secretion and Autophagy Dysregulation

2026-06-13

Abstract excerpt

<title>Abstract</title> <p> GNE myopathy (GNEM) is a neuromuscular disorder caused by biallelic mutations in the gene <italic>GNE</italic> , which encodes a bifunctional enzyme essential for the biosynthesis of sialic acid. Despite extensive characterization, no effective therapies or validated biomarkers exist, and the molecular mechanisms driving disease pathology remain poorly understood. This study identif...

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Literature Corpus work: 64a16283-724d-5f78-be5f-09ac2b55d3b8
DOI: 10.21203/rs.3.rs-9791335/v1

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