Title : Niemann-Pick type C pathogenesis and treatment: from statins to sugars.

Pub. Date : 2010 Jun 1

PMID : 21394236






1 Functional Relationships(s)
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1 For example, the small molecule inhibition of glucosylceramide synthase by miglustat limits ganglioside accumulation and is now the only approved treatment of Niemann-Pick type C. In addition, 2-hydroxypropyl-B-cyclodextrin, a lipid chelator, relieves the lysosomal to endoplasmic reticulum blockage and markedly increases the life expectancy of the murine model. Gangliosides UDP-glucose ceramide glucosyltransferase Mus musculus