DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.

@article{Fantur2010DLHexDGJAN,
  title={DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.},
  author={Katrin M. Fantur and Doris Hofer and Georg Schitter and Andreas J Steiner and Bettina M. Pabst and Tanja M Wrodnigg and Arnold E. St{\"u}tz and Eduard Paschke},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={100 3},
  pages={262-8}
}
G(M1)-gangliosidosis (GM1) and Morquio B disease (MBD) are rare lysosomal storage disorders caused by mutations in the gene GLB1. Its main gene product, human acid beta-galactosidase (beta-Gal) degrades two functionally important molecules, G(M1)-ganglioside and keratan sulfate in brain and connective tissues, respectively. While GM1 is a severe, phenotypically heterogenous neurodegenerative disorder, MBD is a systemic bone disease without effects on the central nervous system. A MBD-specific… CONTINUE READING
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