Non-specific accumulation of glycosphingolipids in GNE myopathy

BACKGROUND: UDP-GlcNAc 2-epimerase/ManNAc 6-kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromus...

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Hlavní autoři: Patzel, Katherine A., Yardeni, Tal, Poëc-Celic, Erell Le, Leoyklang, Petcharat, Dorward, Heidi, Alonzi, Dominic S., Kukushkin, Nikolay V., Xu, Bixue, Zhang, Yongmin, Sollogoub, Matthieu, Blériot, Yves, Gahl, William A., Huizing, Marjan, Butters, Terry D.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3979983/
https://ncbi.nlm.nih.gov/pubmed/24136589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9655-6
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