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

@article{Galeano2007MutationIT,
  title={Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.},
  author={Belinda Galeano and Riko Klootwijk and Irini Manoli and Maosen Sun and Carla Ciccone and Daniel Darvish and Matthew F. Starost and Patricia M. Zerfas and Victoria J. Hoffmann and Shelley L. Hoogstraten-Miller and Donna Krasnewich and William A Gahl and Marjan Huizing},
  journal={The Journal of clinical investigation},
  year={2007},
  volume={117 6},
  pages={1585-94}
}
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 M712T Gne/Mnk mutation. Homozygous mutant (Gne(M712T/M712T)) mice did not survive beyond P3. At P2, significantly decreased Gne-epimerase activity was observed in Gne(M712T/M712T) muscle, but no… CONTINUE READING

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