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Niemann-Pick disease, type C (NPC) is a progressive autosomal recessive neurodegenerative disease, characterized by late endosomal-lysosomal accumulation of multiple lipid molecules in association with abnormal tubulovesicular trafficking. The major gene product, NPC1 protein, is not suitable for transduction therapies, and gene replacement or repair is not yet practicable for NPC and related disorders. Attempts at therapy to date have focused on reduction of the accumulating molecules that are presumed to have direct or indirect toxic effects. More recent insights into the pathophysiology of NPC raise the possibility of small molecule therapies to interdict pathways triggering apoptosis and related routes to cell death and dysfunction.

Original publication

DOI

10.1016/j.bbalip.2004.08.013

Type

Journal article

Journal

Biochim Biophys Acta

Publication Date

11/10/2004

Volume

1685

Pages

77 - 82

Keywords

1-Deoxynojirimycin, Animals, Cholesterol, Genetic Engineering, Genetic Therapy, Glycolipids, Humans, Neurons, Niemann-Pick Diseases, Stem Cell Transplantation