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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Mots clés AGROVOC

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

Informations bibliographiques

Publié dans

Traffic

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

Editeur

Oxford University Press

D'autres materias

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

Langue

anglais

Type

Journal Article; Text

Sur AGRIS depuis: 2024-02-27

Format: MODS

Fournisseur de données

Cette notice bibliographique a été fournie par National Agricultural Library

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Liens

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

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