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• W1873149227 abstract "Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartments. Mutations in the NPC1 protein are implicated in 95% of patients with NPC disease. The most prevalent mutation is the missense mutation I1061T that occurs in ∼15–20% of the disease alleles. In our study, an isobaric labeling-based quantitative analysis of proteome of NPC1I1061T primary fibroblasts when compared with wild-type cells identified 281 differentially expressed proteins based on stringent data analysis criteria. Gene ontology enrichment analysis revealed that these proteins play important roles in diverse cellular processes such as protein maturation, energy metabolism, metabolism of reactive oxygen species, antioxidant activity, steroid metabolism, lipid localization, and apoptosis. The relative expression level of a subset of differentially expressed proteins (TOR4A, DHCR24, CLGN, SOD2, CHORDC1, HSPB7, and GAA) was independently and successfully substantiated by Western blotting. We observed that treating NPC1I1061T cells with four classes of seven different compounds that are potential NPC drugs increased the expression level of SOD2 and DHCR24. We have also shown an abnormal accumulation of glycogen in NPC1I1061T fibroblasts possibly triggered by defective processing of lysosomal alpha-glucosidase. Our study provides a starting point for future more focused investigations to better understand the mechanisms by which the reported dysregulated proteins triggers the pathological cascade in NPC, and furthermore, their effect upon therapeutic interventions." @default.
• W1873149227 created "2016-06-24" @default.
• W1873149227 creator A5015358071 @default.
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• W1873149227 creator A5079375370 @default.
• W1873149227 creator A5083768832 @default.
• W1873149227 date "2015-07-01" @default.
• W1873149227 modified "2023-10-17" @default.
• W1873149227 title "Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann–Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis*" @default.
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• W1873149227 doi "https://doi.org/10.1074/mcp.m114.045609" @default.
• W1873149227 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4587331" @default.
• W1873149227 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25873482" @default.
• W1873149227 hasPublicationYear "2015" @default.
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