Targeted disruption of a murine glucuronyl C5-epimerase gene results in heparan sulfate lacking L-iduronic acid and in neonatal lethality.

@article{Li2003TargetedDO,
  title={Targeted disruption of a murine glucuronyl C5-epimerase gene results in heparan sulfate lacking L-iduronic acid and in neonatal lethality.},
  author={Jin-Ping Li and Feng Gong and {\AA}sa Hagner-McWhirter and Erik Forsberg and Magnus {\AA}brink and Robert Kisilevsky and Xiao Zhang and Ulf Lindahl},
  journal={The Journal of biological chemistry},
  year={2003},
  volume={278 31},
  pages={28363-6}
}
The glycosaminoglycan, heparan sulfate (HS), binds proteins to modulate signaling events in embryogenesis. All identified protein-binding HS epitopes contain l-iduronic acid (IdoA). We report that targeted disruption of the murine d-glucuronyl C5-epimerase gene results in a structurally altered HS lacking IdoA. The corresponding phenotype is lethal, with renal agenesis, lung defects, and skeletal malformations. Unexpectedly, major organ systems, including the brain, liver, gastrointestinal… CONTINUE READING

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