Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.

@article{Pirard1999EffectOM,
  title={Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.},
  author={Michel Pirard and Gert Matthijs and L. Heykants and Els Schollen and Stephanie Gr{\"u}newald and Jaak Jaeken and Emile van Schaftingen},
  journal={FEBS letters},
  year={1999},
  volume={452 3},
  pages={319-22}
}
Seven mutant forms of human phosphomannomutase 2 were produced in Escherichia coli and purified. These mutants had a Vmax of 0.2-50% of the wild enzyme and were unstable. The least active protein (R141H) bears a very frequent mutation, which has never been found in the homozygous state whereas the second least active protein (D188G) corresponds to a mutation associated with a particularly severe phenotype. We conclude that total lack of phosphomannomutase 2 is incompatible with life. Another… CONTINUE READING

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