biostudies-literatureLi WNational Institute of Neurological Disorders and StrokeIntramural NIH HHSEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNINDS NIH HHSNational Niemann-Pick Disease Foundatione2200378https://www.ebi.ac.uk/biostudies/studies/S-EPMC10918788biostudies-literatureUnknown23(11)Niemann-Pick, type C1 (NPC1) is a fatal, neurodegenerative disease, which belongs to the family of lysosomal diseases. In NPC1, endo/lysosomal accumulation of unesterified cholesterol and sphingolipids arise from improper intracellular trafficking resulting in multi-organ dysfunction. With the proximity between the brain and cerebrospinal fluid (CSF), performing differential proteomics provides a means to shed light to changes occurring in the brain. In this study, CSF samples obtained from NPC1 individuals and unaffected controls were used for protein biomarker identification. A subset of these individuals with NPC1 are being treated with miglustat, a glycosphingolipid synthesis inhibitor. Of the 300 identified proteins, 71 proteins were altered in individuals with NPC1 compared to controProteomicsA differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.PMC10918788R01 NS114413ZIA GD008989ZIA HD008989R01 NS124784Picache JAWassif CAPergande MRBurkert KYanjanin-Farhat NMSearle BCLi WPorter FDCologna SMBlank PSToth CLCrutchfield CABacklund PSfalseA differential proteomics study of cerebrospinal fluid from individuals with Niemann-Pick disease, Type C1.Niemann-Pick, type C1 (NPC1) is a fatal, neurodegenerative disease, which belongs to the family of lysosomal diseases. In NPC1, endo/lysosomal accumulation of unesterified cholesterol and sphingolipids arise from improper intracellular trafficking resulting in multi-organ dysfunction. With the proximity between the brain and cerebrospinal fluid (CSF), performing differential proteomics provides a means to shed light to changes occurring in the brain. In this study, CSF samples obtained from NPC1 individuals and unaffected controls were used for protein biomarker identification. A subset of these individuals with NPC1 are being treated with miglustat, a glycosphingolipid synthesis inhibitor. Of the 300 identified proteins, 71 proteins were altered in individuals with NPC1 compared to contro2023-01-01T00:00:00Z2023 Jun2025-04-04T12:58:37.454Z2025-04-04T12:58:37.454ZS-EPMC109187883663818710.1002/pmic.202200378