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… 
View on Springer
ncbi.nlm.nih.gov
45 Citations
Background Citations
16
Results Citations
1

45 Citations

Citation Type

Citation Type

Neuronal Cell Death in Glycosphingolipidoses
TLDR
What little is known is reviewed about the correlation of the clinical progression and pathology with the underlying biochemistry of the GSDs, which include more than 40 different human disorders.
Sphingolipid metabolism diseases.
Genetic diseases of sphingolipid metabolism: Pathological mechanisms and therapeutic options
Cyclodextrin‐Based Iminosugar Click Clusters: The First Examples of Multivalent Pharmacological Chaperones for the Treatment of Lysosomal Storage Disorders
TLDR
The pharmacological chaperone concept has recently raised many hopes for the treatment of inherited diseases that are caused by improperly folded proteins, and the ability of reversible inhibitors of the deficient enzymes to enhance their residual hydrolytic activity at sub-inhibitory concentrations is demonstrated.
Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders.
Glycosphingolipids and kidney disease.
TLDR
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.
Sphingolipid and Ceramide Homeostasis: Potential Therapeutic Targets
TLDR
This paper outlines the major pathways in eukaryotic sphingolipid metabolism and discusses these in relation to disease and therapy for both chronic and infectious conditions.
Current and emerging therapies for the lysosomal storage disorders
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
Sphingolipids: the nexus between Gaucher disease and insulin resistance
  • M. Fuller
  • Biology, Chemistry
    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.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 51 REFERENCES
The pathogenesis of glycosphingolipid storage disorders.
Lysosomal Storage Diseases: Is Impaired Apoptosis a Pathogenic Mechanism?
TLDR
The potential role of apoptotic cell death in the development of the cellular and tissue lesions seen in lysosomal storage disorders, and particularly in neurological diseases, is discussed and a list of observations documenting either a decrease or an exacerbation in apoptosis induction are presented.
Insights into the diagnosis and treatment of lysosomal storage diseases.
TLDR
Diagnosis of suspected patients can usually be made by measuring the activity of an enzyme or concentration of a metabolite in easily obtained tissue samples, and the considerable diagnostic experience of the laboratory aid the physician in selecting the appropriate tests to perform.
The cell biology of lysosomal storage disorders
TLDR
The biochemistry of lysosomal storage disorders is summarized and downstream cellular pathways that are potentially affected in these disorders are discussed and that might help to delineate their pathological mechanisms.
Secondary accumulation of gangliosides in lysosomal storage disorders.
  • S. Walkley
  • Biology, Chemistry
    Seminars in cell & developmental biology
  • 2004
New directions in the treatment of Gaucher disease.
[Niemann-Pick disease types A and B].
  • K. Ohno
  • Biology, Chemistry
    Nihon rinsho. Japanese journal of clinical medicine
  • 1995
TLDR
Progress suggest that ceramide, which is produced by sphingomyelinase from sphingomelin, is an important factor for signal transduction of cell differentiation and abnormal phospholipid signaling is involved in the pathogenesis of neuronal cell dysfunction of Niemann-Pick disease type A.
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.
TLDR
Examination of genes that showed altered expression in both patients revealed molecular details of the pathophysiology of the disorders relating to neuronal dysfunction and loss, consistent with a model of neurodegeneration that includes inflammation as a factor leading to the precipitous loss of neurons in individuals with these disorders.
Glycosphingolipids and cell death
TLDR
This review summarizes current knowledge of the involvement of glycosphingolipids in cell death and in other pathological processes and diseases.
5 Neuronopathic forms of Gaucher's disease
...
1
2
3
4
5
...