A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL.

@article{Diggelen1999ARF,
  title={A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL.},
  author={Otto P. van Diggelen and Joke L M Keulemans and Bryan Winchester and Irving Hofman and S. L. Vanhanen and Pirkko Santavuori and Ya. V. Voznyi},
  journal={Molecular genetics and metabolism},
  year={1999},
  volume={66 4},
  pages={240-4}
}
A deficiency of palmitoyl-protein thioesterase (PPT) was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assays are complicated and impractical for diagnostic use. We have recently developed a new, fluorometric assay for PPT based on the sensitive fluorochrome 4-methylumbelliferone, requiring an overnight incubation to measure PPT. Now we have synthesized an analogue of this substrate which allows PPT determinations in 1 h. This… CONTINUE READING

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