PXD001938

PXD001938 is an original dataset announced via ProteomeXchange.

Title	Quantitative proteomics of human NPC1-I1061T mutant fibroblasts provides insights into the pathogenesis of Niemann-Pick Type C disease
Description	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 approximately 15–20% of disease alleles. In this study, we have performed an isobaric labeling based quantitative analysis of proteome of NPC1-I1061T versus wild-type primary fibroblasts.
HostingRepository	PRIDE
AnnounceDate	2015-04-20
AnnouncementXML	Submission_2015-04-20_03:07:14.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Navin Rauniyar
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue; TMT6plex-126 reporter+balance reagent acylated residue
Instrument	LTQ Orbitrap Velos

Revision	Datetime	Status	ChangeLog Entry
0	2015-03-16 02:26:54	ID requested
⏵ 1	2015-04-20 03:07:16	announced

Rauniyar N, Subramanian K, Lavall, é, e-Adam M, Mart, í, nez-Bartolom, é S, Balch WE, Yates JR, Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis. Mol Cell Proteomics, 14(7):1734-49(2015) [pubmed]

curator keyword: Biomedical

submitter keyword: NPC, NPC1-I1061T, Niemann-Pick type C, Isobaric labeling, Tandem mass tags, TMT, Proteomics, Quantitative proteomics, Mass Spectrometry, MudPIT

John R Yates, 3rd
contact affiliation	The Scripps Research Institute
contact email	jyates@scripps.edu
lab head
Navin Rauniyar
contact affiliation	TSRI
contact email	navin@scripps.edu
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2015/04/PXD001938

PRIDE project URI

• PRIDE
  1. PXD001938
     1. Label: PRIDE project
     2. Name: Quantitative proteomics of human NPC1-I1061T mutant fibroblasts provides insights into the pathogenesis of Niemann-Pick Type C disease