Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapy


GNE myopathy is a rare, adult onset, muscle disorder of progressive muscle weakness and atrophy, caused by deficiency of the key enzyme in sialic acid (NeuAc) biosynthesis. Effective biomarkers for diagnosis and response to therapy are lacking for this disorder. Qualitative lectin staining of muscle biopsies from GNE myopathy humans and mice demonstrated reduced sarcolemmal sialylation, and mouse sarcolemma re-sialylation upon oral therapy with the sialic acid precursor N-acetylmannosamine (ManNAc).


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