The DOI matches its Crossref record; 257 of the 257 references it cites were found in a registry or an index.
Sphingolipid metabolism diseases
Open accessAbstract
Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the degradation of these compounds. The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in one or more organs. Most sphingolipidoses are associated with high mortality. Both, the ratio of substrate influx into the lysosomes and the reduced degradative capacity can be addressed by therapeutic approaches. In addition to symptomatic treatments, the current strategies for restoration of the reduced substrate degradation within the lysosome are enzyme replacement therapy (ERT), cell-mediated therapy (CMT) including bone marrow transplantation (BMT) and cell-mediated "cross correction", gene therapy, and enzyme-enhancement therapy with chemical chaperones. The reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT.
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Cites
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Cited by
Glycosylation in health and disease
Reily, C., Stewart, T. J., Renfrow, M. B., & Novak, J. (2019) · Nature Reviews Nephrology · doi:10.1038/s41581-019-0129-4 · Cited by 2,075
Global reconstruction of the human metabolic network based on genomic and bibliomic data
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Braulke, T., & Bonifacino, J. S. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.10.016 · Cited by 811
The sphingolipid salvage pathway in ceramide metabolism and signaling
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Caseation of human tuberculosis granulomas correlates with elevated host lipid metabolism
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Metadata
- Authors
- Kolter, T., & Sandhoff, K.
- Venue
- Biochimica et Biophysica Acta (BBA) - Biomembranes
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 1758
- Issue
- 12
- Pages
- 2057-2079
- ISSN
- 0005-2736 (ISSN-L)
- OpenAlex
- W2165980275
- Cited by
- 367
- References
- 257
- FWCI
- 12.35
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kolter, T., & Sandhoff, K. (2006). Sphingolipid metabolism diseases. Biochimica et Biophysica Acta (BBA) - Biomembranes. https://doi.org/10.1016/j.bbamem.2006.05.027
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
