International Journal of Molecular Sciences Article Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1 Kyle B. Martin 1, Ian M. Williams 1, Celine V. Cluzeau 1, Antony Cougnoux 1, Ryan K. Dale 2, James R. Iben 3, Niamh X. Cawley 1, Christopher A. Wassif 1 and Forbes D. Porter 1,* 1 Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA;
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[email protected] (C.A.W.) 2 Bioinformatics and Scientific Programming Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA;
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[email protected]; Tel.: +1-301-435-4432 Received: 7 December 2019; Accepted: 25 December 2019; Published: 31 December 2019 Abstract: Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease characterized by progressive cerebellar ataxia. In NPC1, a defect in cholesterol transport leads to endolysosomal storage of cholesterol and decreased cholesterol bioavailability. Purkinje neurons are sensitive to the loss of NPC1 function.