A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

@inproceedings{Chu2013AZM,
  title={A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation},
  author={Jaime Chu and Alexander Mir and Ningguo Gao and Sabrina Rosa and Christopher A Monson and Vandana Sharma and Richard A Steet and Hudson H. Freeze and Mark A. Lehrman and Kirsten C Sadler},
  booktitle={Disease models & mechanisms},
  year={2013}
}
Individuals with congenital disorders of glycosylation (CDG) have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked… CONTINUE READING