Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho–N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder. We created knockin mice harboring the M71...

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Main Authors: Galeano, Belinda, Klootwijk, Riko, Manoli, Irini, Sun, MaoSen, Ciccone, Carla, Darvish, Daniel, Starost, Matthew F., Zerfas, Patricia M., Hoffmann, Victoria J., Hoogstraten-Miller, Shelley, Krasnewich, Donna M., Gahl, William A., Huizing, Marjan
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2007
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1878529/
https://ncbi.nlm.nih.gov/pubmed/17549255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI30954
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