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Science Translational Medicine|February 27, 2015
Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 diseaseCharles H Vite, Jessica H Bagel, Gary P Swain, et al.The Journal of Biological Chemistry|October 5, 2012
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disordersMiao Xu, Ke Liu, Manju Swaroop, et al.Molecular Genetics and Metabolism|November 28, 2017
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and courseNahid Tayebi, Loukia Parisiadou, Bahafta Berhe, et al.The Journal of Clinical Investigation|August 11, 2020
Krabbe disease successfully treated via monotherapy of intrathecal gene therapyAllison M Bradbury, Jessica H Bagel, Duc Nguyen, et al.Science Translational Medicine|May 6, 2016
Development of a bile acid-based newborn screen for Niemann-Pick disease type CXuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, et al.Disease Models & Mechanisms|August 3, 2016
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher diseaseWendy Westbroek, Matthew Nguyen, Marina Siebert, et al.Journal of Inherited Metabolic Disease|January 31, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylationAn N Dang Do, Irene J Chang, Xutian Jiang, et al.Wellcome Open Research|December 24, 2016
Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathwayPaul Fineran, Emyr Lloyd-Evans, Nathan A Lack, et al.Blood|November 16, 2013
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, et al.Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|May 4, 2019
2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 diseaseJessica Davidson, Elizabeth Molitor, Samantha Moores, et al.Pageof 17