A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.

@article{Izumikawa2013ACS,
  title={A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.},
  author={Tomomi Izumikawa and Kazumasa Saigoh and Jun Shimizu and Shoji Tsuji and Susumu Kusunoki and Hiroshi Kitagawa},
  journal={Biochimica et biophysica acta},
  year={2013},
  volume={1830 10},
  pages={4806-12}
}
BACKGROUND Previously, we identified two missense mutations in the chondroitin N-acetylgalactosaminyltransferase-1 gene in patients with neuropathy. These mutations are associated with a profound decrease in chondroitin N-acetylgalactosaminyltransferase-1 enzyme activity. Here, we describe a patient with neuropathy who is heterozygous for a chondroitin synthase-1 mutation. Chondroitin synthase-1 has two glycosyltransferase activities: it acts as a GlcUA and a GalNAc transferase and is… CONTINUE READING

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