Glycosphingolipidoses: Beyond the enzymatic defect

@article{RaasRothschild2004GlycosphingolipidosesBT,
  title={Glycosphingolipidoses: Beyond the enzymatic defect},
  author={Annick Raas-Rothschild and Irene Pankova-Kholmyansky and Yaacov Kacher and Anthony H. Futerman},
  journal={Glycoconjugate Journal},
  year={2004},
  volume={21},
  pages={295-304}
}
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… 
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This review focuses on recent advances in understanding of how defects in the pathways of sphingolipid metabolism may lead to pathology and discusses currently‐available and emerging therapeutic options.
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The current knowledge and understanding of sphingolipid metabolism and signaling in the pathogenesis of ocular diseases is discussed.
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Evidence supporting a mechanistic role for glycosphingolipids in kidney disease is reviewed and data implicating a role for these lipids in kidneys disease resulting from metabolic syndrome is discussed.
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TLDR
The projected lifetime acquisition costs of newly introduced therapeutic options raises several issues, related to equitable access and the large opportunity costs for other therapeutic areas, that will need to be addressed by healthcare policy makers and third-party payers.
1 – Lysosomal Disorders of the Nervous System
TLDR
The key pathogenic features affecting neurons in these diseases, principally in perikarya and in larger dendrites, and the links between the storage disorders and known functions of the greater lysosomal system are defined.
Sphingolipids: the nexus between Gaucher disease and insulin resistance
  • M. Fuller
  • Biology, Medicine
    Lipids in Health and Disease
  • 2010
TLDR
Evidence that insulin resistance has been reported in patients with Gaucher disease and this article presents evidence that this is due to perturbations in the metabolism of sphingolipids is presented, may lead to a better understanding of the biochemical mechanisms behind pathology.
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