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

Pub. Date : 2010 Apr

PMID : 20059748






1 Functional Relationships(s)
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1 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. Calcium NPC intracellular cholesterol transporter 1 Homo sapiens