Lipids on trial: The search for the offending metabolite in Niemann-Pick type C disease

Lloyd-Evans, Emyr ORCID: https://orcid.org/0000-0002-3626-1611 and Platt, Frances M. 2010. Lipids on trial: The search for the offending metabolite in Niemann-Pick type C disease. Traffic 11 (4) , pp. 419-428. 10.1111/j.1600-0854.2010.01032.x

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Abstract

Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. We review the potential role of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Biosciences
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > RB Pathology
Uncontrolled Keywords:	NPC1; NPC2; sphingosine; sphingolipid; cholesterol; lysosomal calcium; lysosomal storage disease
Publisher:	Wiley-Blackwell
ISSN:	1398-9219
Last Modified:	19 Oct 2022 10:37
URI:	https://orca.cardiff.ac.uk/id/eprint/24986

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