Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

@article{dAzzo1982MolecularDI,
  title={Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.},
  author={A. d'Azzo and A. Hoogeveen and A. Reuser and D. Robinson and H. Galjaard},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1982},
  volume={79 15},
  pages={
          4535-9
        }
}
In normal human fibroblasts, an enzymically active 85,000-dalton precursor form of beta-galactosidase is processed, via a number of intermediates, into a mature 64,000-dalton form. In addition there is an enzymically inactive 32,000-dalton component and its 54,000-dalton precursor. In fibroblasts from patients with a combined deficiency of beta-galactosidase and neuraminidase these last two components are absent and hardly any mature beta-galactosidase can be demonstrated. Nevertheless, in the… Expand
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