Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

@article{Tropak2004PharmacologicalEO,
  title={Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.},
  author={M. B. Tropak and Stephen P Reid and Marianne Guiral and Stephen G Withers and Don Joseph Mahuran},
  journal={The Journal of biological chemistry},
  year={2004},
  volume={279 14},
  pages={13478-87}
}
Tay-Sachs and Sandhoff diseases are lysosomal storage disorders that result from an inherited deficiency of beta-hexosaminidase A (alphabeta). Whereas the acute forms are associated with a total absence of hexosaminidase A and early death, the chronic adult forms exist with activity and protein levels of approximately 5%, and unaffected individuals have been found with only 10% of normal levels. Surprisingly, almost all disease-associated missense mutations do not affect the active site of the… CONTINUE READING

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