Niemann-Pick disease type C

Definition:

Niemann-Pick disease type C is an autosomal recessive lysosomal lipid storage disorder caused by a defect of NPC1 or NPC2 involved in cholesterol trafficking. The disease is characterized by neurodegeneration starting from early life. While NPC1 is a lysosomal transmembrane protein involved in shuttling of substrates to the Golgi and possibly elsewhere in cells, NPC2 is a soluble lysosomal protein known to bind cholesterol.

References:

[1]. Chris D Pacheco, et al. The pathogenesis of Niemann-Pick type C disease: a role for autophagy?. Expert Rev Mol Med. 2008 Sep 10;10:e26. [Content Brief]

[2]. Elina Ikonen, et al. Cellular pathology of Niemann-Pick type C disease. Semin Cell Dev Biol. 2004 Aug;15(4):445-54. [Content Brief]

[3]. Jean E Vance, et al. Lipid imbalance in the neurological disorder, Niemann-Pick C disease. FEBS Lett. 2006 Oct 9;580(23):5518-24. [Content Brief]

[4]. Marc C Patterson, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 2007 Sep;6(9):765-72. [Content Brief]

[5]. Steven U Walkley, et al. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):48-62. [Content Brief]

[6]. Sushmita Mukherjee, et al. Lipid and cholesterol trafficking in NPC. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):28-37. [Content Brief]

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