Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C

Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from glycosphingolipidosis patients. Substrate reduction therapy...

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Bibliographic Details
Main Authors: Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox, Frances M Platt
Format: Article
Language:English
Published: Elsevier 2004-08-01
Series:Neurobiology of Disease
Subjects:
Niemann–Pick disease type C
Substrate reduction therapy
Miglustat
Glycosphingolipidoses
Lipid trafficking
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996104001111

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