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PXD011007

PXD011007 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleProteomics exploration of the Atp7b-/- mouse plasma proteome: translational relevance for the diagnosis of Wilson’s disease
DescriptionWilson’s disease (WD) is a rare genetic disease caused by mutations in the ATP7B gene. These mutations impact the expression and/or function of the copper-transporting ATP7B protein, leading to massive toxic accumulation of copper in the liver and brain. Due to its low incidence and highly variable clinical presentations, WD is challenging to diagnose. Here, we explored the plasma proteome of the Atp7b-/- mouse, a genetic and phenotypic model of WD, to provide new insights into the pathogenic mechanisms of WD and discover potential biomarkers for WD diagnosis. A mass spectrometry (MS)-based proteomics workflow combining unbiased discovery analysis followed by targeted quantification was developed. Analysis of two independent groups of samples (discovery and validation cohorts) highlighted seven plasma proteins for which abundance was significantly modified (more than 2-fold) between Atp7b-/- mice and wild-type littermates. To assess the clinical significance and specificity of these seven proteins as potential biomarkers for WD, we adapted our targeted proteomics assay to allow the quantification of human orthologues in plasma from WD patients (treated with copper chelators), non-alcoholic steatohepatitis patients (disease-control group), and healthy donors. The plasma proteome changes observed in the Atp7b-/- mouse were not confirmed in treated WD patients, with the exception of alpha-1 antichymotrypsin, levels of which were decreased in WD patients compared to healthy individuals. Plasma ceruloplasmin was investigated in both the Atp7b-/- mouse model and human patients, and was found to be significantly decreased in the human form of WD only.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_05:02:02.250.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterYohann Couté
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListmonohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
InstrumentQ TRAP; LTQ Orbitrap Velos
Dataset History
RevisionDatetimeStatusChangeLog Entry
02018-09-05 05:20:14ID requested
12020-04-14 02:06:33announced
22024-10-22 05:02:10announced2024-10-22: Updated project metadata.
Publication List
Lacombe M, Jaquinod M, Belmudes L, Cout, é Y, Ramus C, Combes F, Burger T, Mintz E, Barthelon J, Leroy V, Poujois A, Lachaux A, Woimant F, Brun V, mouse plasma proteome. Metallomics, 12(2):249-258(2020) [pubmed]
10.1039/c9mt00225a;
Keyword List
submitter keyword: LC-SRM, liver, biomarkers,Wilson's disease, nanoLC-MS/MS
Contact List
Virginie Brun
contact affiliationEDyP
contact emailvirginie.brun@cea.fr
lab head
Yohann Couté
contact affiliationEDyP
contact emailyohann.coute@cea.fr
dataset submitter
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Dataset FTP location
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PRIDE project URI
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