Dataset Information
Quantitative proteomics of human NPC1I1061T (sic) mutant fibroblasts provides insights into the pathogenesis of Niemann-Pick Type C disease.
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Instrument
ORGANISM(S): Homo_sapiens_viruses, Human
DISEASE(S): Not Available
SUBMITTER: 
Rauniyar N, et al.
PROVIDER: GPM32320014822 | GPMDB |
REPOSITORIES: GPMDB
Publications
Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis.
Molecular & cellular proteomics : MCP 20150414 7
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 NPC1(I1061T) primary fibroblasts when compared with ...[more]
