In Niemann-Pick type C disease, the most prevalent I1061T mutation inhibits folding and trafficking of the NPC1 protein to the endosomes/lysosomes. In this issue of Chemistry & Biology, Ohgane and colleagues used pharmacological chaperones to repair the defect and identify a second sterol-binding site.
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| http://dx.doi.org/10.1016/j.chembiol.2013.03.001 | DOI Listing |
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