Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

Lloyd-Evans, Emyr; Platt, Frances M.

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

2010

Lloyd-Evans, Emyr | Platt, Frances M.

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

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AGROVOC Keywords

animals carrier proteins cholesterol cholesterol genetics glycoproteins humans lipid metabolism lysosomes metabolism mice sphingolipid

Bibliographic information

Published in

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Volume 11 Issue 4 Pagination 419 - 428 ISSN 1398-9219

Publisher

Oxford University Press

Other Subjects

Npc2; Npc1; Sphingosine; Lysosomal calcium; Membrane glycoproteins; Glycosphingolipids; Sphingosine; Niemann-pick disease; Type c; Lysosomal storage disease

Language

English

Type

Journal Article; Text

In AGRIS since: 2024-02-27

Format: MODS

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This bibliographic record has been provided by National Agricultural Library

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Links

DOI http://dx.doi.org/10.1111/j.1600-0854.2010.01032.x

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