References
- Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;5:16. https://doi.org/10.1186/1750-1172-5-16
- McKay Bounford K, Gissen P. Genetic and laboratory diagnostic approach in Niemann Pick disease type C. J Neurol 2014;261(Suppl 2):S569-75. https://doi.org/10.1007/s00415-014-7386-8
- Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007;30:51-9. https://doi.org/10.1007/s10545-006-0384-7
- Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurology 2007;6:765-72. https://doi.org/10.1016/S1474-4422(07)70194-1
- Sturley SL, Patterson MC, Balch W, Liscum L. The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta 2004;1685:83-7. https://doi.org/10.1016/j.bbalip.2004.08.014
- Walkley SU, Suzuki K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim Biophys Acta 2004;1685:48-62. https://doi.org/10.1016/j.bbalip.2004.08.011
- Reid PC, Sugii S, Chang TY. Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice. J Lipid Res 2003;44:1010-9. https://doi.org/10.1194/jlr.M300009-JLR200
- Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, et al. Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review. Mol Genet Metab 2016;118:244-54. https://doi.org/10.1016/j.ymgme.2016.06.004
- Scott C, Ioannou YA. The NPC1 protein: structure implies function. Biochim Biophys Acta 2004;1685:8-13. https://doi.org/10.1016/j.bbalip.2004.08.006
- Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc Natl Acad Sci U S A 2009;106:2377-82. https://doi.org/10.1073/pnas.0810895106
- Brady RO. Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation Research 2006;9:237-44. https://doi.org/10.1089/rej.2006.9.237
- Rosenbaum AI, Maxfield FR. Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches. J Neurochem 2011;116:789-95. https://doi.org/10.1111/j.1471-4159.2010.06976.x
- Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, et al. Collaborative development of 2-hydroxypropyl-beta-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem 2014;14:330-9. https://doi.org/10.2174/1568026613666131127160118
- Helquist P, Maxfield FR, Wiech NL, Wiest O. Treatment of Niemann-Pick type C disease by histone deacetylase inhibitors. Neurotherapeutics 2013;10:688-97. https://doi.org/10.1007/s13311-013-0217-2