[HTML][HTML] Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions

ND Pham, PC Pang, S Krishnamurthy… - Journal of Biological …, 2017 - ASBMB
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. Mutations to both GNE
domains are linked to GNE myopathy. However, correlation between mutation-associated …