Protein glycosylation in disease: new insights into the congenital muscular dystrophies.

@article{MartinRendon2003ProteinGI,
  title={Protein glycosylation in disease: new insights into the congenital muscular dystrophies.},
  author={Enca Martin-Rendon and Derek J Blake},
  journal={Trends in pharmacological sciences},
  year={2003},
  volume={24 4},
  pages={178-83}
}
Glycosylation is the most frequent modification of proteins and is important for many ligand-receptor interactions. Recently, defects in protein glycosylation have been linked to several forms of congenital muscular dystrophy that are frequently associated with brain abnormalities. Muscle-eye-brain disease and Walker-Warburg syndrome are caused by mutations in enzymes involved in O-mannosylation, whereas Fukuyama congenital muscular dystrophy and congenital muscular dystrophy type 1C are caused… CONTINUE READING
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