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Journal article

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.

Abstract:

The glycosphingolipid (GSL) lysosomal storage diseases are caused by mutations in the genes encoding the glycohydrolases that catabolize GSLs within lysosomes. In these diseases the substrate for the defective enzyme accumulates in the lysosome and the stored GSL leads to cellular dysfunction and disease. The diseases frequently have a progressive neurodegenerative course. The therapeutic options for treating these diseases are relatively limited, and for the majority there are no effective t...

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Publication status:
Published

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Publisher copy:
10.1023/a:1010335505357

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
Jeyakumar, M More by this author
Andersson, U More by this author
Priestman, DA More by this author
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Journal:
Journal of inherited metabolic disease
Volume:
24
Issue:
2
Pages:
275-290
Publication date:
2001-04-05
DOI:
EISSN:
1573-2665
ISSN:
0141-8955
URN:
uuid:ee3aaed5-37b1-4424-8e68-dcb107f143d1
Source identifiers:
100945
Local pid:
pubs:100945

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