quantitative proteomic analysis of niemann-pick disease, type c1 cerebellum identifies protein biomarkers and provides pathological insight尼曼氏疾病类型的定量蛋白质组学分析c1小脑识别蛋白质生物标记物,并提供病理洞察力.pdfVIP

Quantitative Proteomic Analysis of Niemann-Pick Disease, Type C1 Cerebellum Identifies Protein Biomarkers and Provides Pathological Insight 1 1¤ 2 1 1 Stephanie M. Cologna , Xiao-Sheng Jiang , Peter S. Backlund , Celine V. M. Cluzeau , Michelle K. Dail , 1 1 1 1 1 Nicole M. Yanjanin , Stephan Siebel , Cynthia L. Toth , Hyun-sik Jun , Christopher A. Wassif , 2 1 Alfred L. Yergey , Forbes D. Porter * 1 Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America, 2 Biomedical Mass Spectrometry Facility, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America Abstract Niemann-Pick disease, type C1 (NPC1) is a fatal, neurodegenerative disorder for which there is no definitive therapy. In NPC1, a pathological cascade including neuroinflammation, oxidative stress and neuronal apoptosis likely contribute to the clinical phenotype. While the genetic cause of NPC1 is known, we sought to gain a further understanding into the pathophysiology by identifying differentially expressed proteins in Npc1 mutant mouse cerebella. Using two-dimensional gel electrophoresis and mass spectrometry, 77 differentially expressed proteins were identified in Npc1 mutant mice cerebella compared to controls. These includ