Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts.

@article{Jansen1999LysosomalPA,
  title={Lysosomal phospholipase activity is decreased in mucolipidosis II and III fibroblasts.},
  author={Suzanne M. Jansen and Johanna E. M. Groener and Ben Jhm Poorthuis},
  journal={Biochimica et biophysica acta},
  year={1999},
  volume={1436 3},
  pages={
          363-9
        }
}
Mucolipidosis (ML) II and III are rare autosomal recessively inherited diseases characterized by deficiency of multiple lysosomal enzymes and, as a result, a generalized storage of macromolecules in lysosomes of cells of mesenchymal origin. In ML II and ML III fibroblasts, most, but not all, newly synthesized lysosomal enzymes are secreted into the medium instead of being targeted correctly to lysosomes. Defects in the enzyme UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1… CONTINUE READING
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