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Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis.

Abstract:

Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses. GSL catabolism occurs in the lysosome and a defect in an enzyme involved in GSL degradation leads to the lysosomal storage of its substrate(s). GSLs are abundantly expressed in the central nervous system (CNS) and the disorders frequently have a progressive neurodegenerative course. Our understanding of pathogenesis in these ...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Pharmacology
Role:
Author
Journal:
Neuropathology and applied neurobiology
Volume:
28
Issue:
5
Pages:
343-357
Publication date:
2002-10-05
DOI:
EISSN:
1365-2990
ISSN:
0305-1846
URN:
uuid:0c5f5348-57e6-4492-831d-ab0f2a4cd84e
Source identifiers:
100957
Local pid:
pubs:100957

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