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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书目信息
Traffic
卷
11
期
4
页码
419
- 428
ISSN
1398-9219
出版者
Oxford University Press
其它主题
Npc2; Npc1; Sphingosine; Lysosomal calcium; Membrane glycoproteins; Glycosphingolipids; Sphingosine; Niemann-pick disease; Type c; Lysosomal storage disease
语言
英语
类型
Journal Article; Text
2024-02-27
MODS
