Article
Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions.
The Journal of biological chemistry - 9 Jun 2017
Pham Nam D, Pang Poh-Choo, Krishnamurthy Soumya, Wands Amberlyn M, Grassi Paola, Dell Anne, Haslam Stuart M, Kohler Jennifer J
Abstract excerpt
GNE (UDP-GlcNAc 2-epimerase/ManNAc kinase) myopathy is a rare muscle disorder associated with aging and is related to sporadic inclusion body myositis, the most common acquired muscle disease of aging. Although the cause of sporadic inclusion body myositis is unknown, GNE myopathy is associated with mutations in GNE. GNE harbors two enzymatic activities required for biosynthesis of sialic acid in mammalian cells....
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