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Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.

Abstract:

Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic compartment (which we define as the late endosome and the lysosome) protein, NPC1. The function of NPC1 is unknown, but when it is dysfunctional, sphingosine, glycosphingolipids, sphingomyelin and cholesterol accumulate. We have found that NPC1-mutant cells have a large reduction in the acidic compartment calcium store compared to wild-type cells. Chelating luminal endocytic...

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Publication status:
Published

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Publisher copy:
10.1038/nm.1876

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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Role:
Author
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Journal:
Nature medicine
Volume:
14
Issue:
11
Pages:
1247-1255
Publication date:
2008-11-01
DOI:
EISSN:
1546-170X
ISSN:
1078-8956
Source identifiers:
106497
Language:
English
Keywords:
Pubs id:
pubs:106497
UUID:
uuid:41929d86-588d-4022-8621-68e65bc23195
Local pid:
pubs:106497
Deposit date:
2012-12-19

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