Journal article icon

Journal article

Substrate deprivation: a new therapeutic approach for the glycosphingolipid lysosomal storage diseases.

Abstract:

The glycosphingolipid (GSL) lysosomal storage diseases are a family of human metabolic diseases that, in their severest forms, cause death in early infancy, as a result of progressive neurodegeneration. They are caused by mutations in the genes encoding the glycohydrolases or the activator proteins that catabolise GSLs within lysosomes. In these diseases the GSL substrate of the defective enzyme accumulates in the lysosome, where it is stored and leads to cellular dysfunction and disease. The...

Expand abstract

Actions


Access Document


Publisher copy:
10.1017/S1462399400001484

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
Butters, TD More by this author
Journal:
Expert reviews in molecular medicine
Volume:
2
Issue:
1
Pages:
1-17
Publication date:
2000-02-05
DOI:
EISSN:
1462-3994
URN:
uuid:8f253867-91ce-4baf-8243-e267171cf7e3
Source identifiers:
185374
Local pid:
pubs:185374
Language:
English

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP