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Article

Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.

Biochimie - 1 Aug 2022

Sharma Shweta, Chanana Pratibha, Bharadwaj Ravi, Bhattacharya Sudha, Arya Ranjana

Abstract excerpt

UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) is a bifunctional enzyme (N-terminal epimerase and C-terminal Kinase domain) that catalyses the rate limiting step in sialic acid biosynthesis. More than 200 homozygous missense or compound heterozygous mutations in GNE have been reported worldwide to cause a rare neuromuscular disorder, GNE myopathy. It is characterized by a slowly progressive defect in proximal and...

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PMID: 35398442
DOI: 10.1016/j.biochi.2022.03.014

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