Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

GNE myopathy, previously termed hereditary inclusion body myopathy (HIBM), is an adult-onset neuromuscular disorder characterized by progressive muscle weakness. The disorder results from biallelic mutations in GNE, encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase, the key enz...

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Main Authors: Niethamer, Terren K., Yardeni, Tal, Leoyklang, Petcharat, Ciccone, Carla, Astiz-Martinez, Adrian, Jacobs, Katherine, Dorward, Heidi M., Zerfas, Patricia M., Gahl, William A., Huizing, Marjan
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3504164/
https://ncbi.nlm.nih.gov/pubmed/23122659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.10.011
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