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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
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Cites
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“sphingomyelin, glycosphingolipids and sphingosine [9,22], which have been suggested to influence the stability of lysosomes [26,27].”
BackgroundLack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina
Claudepierre, T., Paques, M., Simonutti, M., Buard, I., Sahel, J., Maue, R. A., Picaud, S., & Pfrieger, F. W. (2010) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2009.10.007 · Cited by 77
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Swaroop, M., Thorne, N., Rao, M. S., Austin, C. P., McKew, J. C., & Zheng, W. (2012) · SLAS Discovery · doi:10.1177/1087057112456877 · Cited by 22
Metadata
- Authors
- Lloyd-Evans, E., Morgan, A. J., He, X., Smith, D. A., Elliot-Smith, E., Sillence, D. J., Churchill, G. C., Schuchman, E. H., Galione, A., & Platt, F. M.
- Venue
- Nature Medicine
- Published
- 2008-10-26
- Volume
- 14
- Issue
- 11
- Pages
- 1247-1255
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- OpenAlex
- W2138786573
- Cited by
- 829
- References
- 1
- FWCI
- 26.34
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
