Article
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Proceedings of the National Academy of Sciences of the United States of America - 20 Apr 2004
Sleat David E, Wiseman Jennifer A, El-Banna Mukarram, Price Sandy M, Verot Lucie, Shen Michael M, Tint G Stephen, Vanier Marie T, Walkley Steven U, Lobel Peter
Abstract excerpt
Niemann-Pick C (NPC) disease is a fatal neurodegenerative disorder characterized by a lysosomal accumulation of cholesterol and other lipids within the cells of patients. Clinically identical forms of NPC disease are caused by defects in either of two different proteins: NPC1, a lysosomal-endosomal transmembrane protein and NPC2, a soluble lysosomal protein with cholesterol binding properties. Although it is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.