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Endocrine/metabolic disease

Glycosphingolipid storage disorders


Cell culture studies suggest compounds that improve lysosomal exocytosis could help treat lysosomal storage disorders such as Niemann-Pick type C disease and Wolman disease. In fibroblasts isolated from patients with Niemann-Pick type C disease or Wolman disease, d-tocopherol increased lysosomal exocytosis and decreased disease markers compared with no treatment. Next steps could include screening for more potent enhancers of lysosomal exocytosis and evaluating them in models of lysosomal storage disorders.
d-Tocopherol is a generic form of vitamin E.

SciBX 5(42); doi:10.1038/scibx.2012.1112
Published online Oct. 25, 2012

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Xu, M. et al. J. Biol. Chem.; published online Oct. 3, 2012;
Contact: Wei Zheng, National Institutes of Health, Bethesda, Md.