Glycoconjugate Journal

, Volume 21, Issue 6, pp 295–304

Glycosphingolipidoses: Beyond the enzymatic defect

  • Annick Raas-Rothschild
  • Irene Pankova-Kholmyansky
  • Yaacov Kacher
  • Anthony H. Futerman
Article

DOI: 10.1023/B:GLYC.0000046272.38480.ef

Cite this article as:
Raas-Rothschild, A., Pankova-Kholmyansky, I., Kacher, Y. et al. Glycoconj J (2004) 21: 295. doi:10.1023/B:GLYC.0000046272.38480.ef

Abstract

The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity of enzymes responsible for glycosphingolipid catabolism. Clinical presentation of the diseases is heterogeneous, with little obvious correlation between the kind of accumulating glycosphingolipid and disease progression or pathogenesis. In this review, we discuss clinical symptoms of this group of diseases, and attempt to link disease progression and pathology with the biochemical and cellular pathways that may be potentially altered in the diseases. Published in 2004.

sphingolipids glycosphingolipidoses lysosomal storage disease calcium phospholipids apoptosis inflammation 

Copyright information

© Kluwer Academic Publishers 2004

Authors and Affiliations

  • Annick Raas-Rothschild
    • 1
    • 2
  • Irene Pankova-Kholmyansky
    • 1
  • Yaacov Kacher
    • 1
  • Anthony H. Futerman
    • 1
  1. 1.Department of Biological ChemistryWeizmann Institute of ScienceIsrael
  2. 2.Department of Human GeneticsHadassah Hebrew University HospitalIsrael

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