Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice

Mutations in the key enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase, result in distal myopathy with rimmed vacuoles (DMRV)/hereditary inclusion body myopathy (HIBM) in humans. Sialic acid is an acidic monosaccharide that modifies non-reducing term...

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Detalles Bibliográficos
Autores principales: Ito, Mitutoshi, Sugihara, Kazushi, Asaka, Tomoya, Toyama, Tadashi, Yoshihara, Toru, Furuichi, Kengo, Wada, Takashi, Asano, Masahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3258264/
https://www.ncbi.nlm.nih.gov/pubmed/22253810
http://dx.doi.org/10.1371/journal.pone.0029873

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