Article
The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates.
Neuromuscular disorders : NMD - 1 Aug 2020
Sela Ilan, Goss Victoria, Becker-Cohen Michal, Dell Anne, Haslam Stuart M, Mitrani-Rosenbaum Stella
Abstract excerpt
GNE Myopathy is a recessive neuromuscular disorder characterized by adult-onset, slowly progressive distal and proximal muscle weakness, and a typical muscle pathology. Although GNE, which is the mutated gene in the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the pathophysiological pathway leading from GNE mutations to the muscle phenotype in GNE Myopathy is still unclear....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.