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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Palabras clave de AGROVOC

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

Información bibliográfica

Publicado en

Traffic

Volumen 11 Edición 4 Paginación 419 - 428 ISSN 1398-9219

Editorial

Oxford University Press

Otras materias

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

Idioma

Inglés

Tipo

Journal Article; Text

En AGRIS desde: 2024-02-27

Formato: MODS

Proveedor de Datos

Este registro bibliográfico ha sido proporcionado por National Agricultural Library

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Enlaces

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

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