Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

@article{Conzelmann1983GangliosideGN,
  title={Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.},
  author={Ernst Conzelmann and H J Kytzia and Ruth Navon and Konrad Sandhoff},
  journal={American journal of human genetics},
  year={1983},
  volume={35 5},
  pages={900-13}
}
A sensitive assay was developed to assess the ability of extracts from cultured fibroblasts to catabolize ganglioside GM2, in the presence of the natural activator protein but without detergents. This method, which permitted the reliable determination of residual activities as low as 0.1% of normal controls, was then used to measure ganglioside GM2 hydrolase activities in fibroblasts from several hexosaminidase variants. The residual activities thus determined correlated well with the clinical… CONTINUE READING

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