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PXD052714

PXD052714 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleAnalysis of neutrophil proteome of Barth syndrome patients
DescriptionBarth syndrome (BTHS) is a rare genetic disease caused by mutations in the TAFAZZIN gene. It is characterized by neutropenia, cardiomyopathy, and skeletal myopathy. Neutropenia in BTHS is associated with life-threatening infections, yet the molecular and physiological causes of this phenomenon are poorly understood. We conducted proteome analysis of circulating neutrophils from BTHS patients to identify upregulated and downregulated canonical pathways that may explain the disruptions in neutrophil maturation and function.
HostingRepositoryPRIDE
AnnounceDate2025-02-12
AnnouncementXMLSubmission_2025-02-12_04:28:32.149.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterBorko Amulic
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListNo PTMs are included in the dataset
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02024-05-30 06:38:56ID requested
12025-02-12 04:28:32announced
Publication List
10.1038/S44319-025-00393-W;
Keyword List
submitter keyword: neutrophil,Barth
Contact List
Borko Amulic
contact affiliationAmulic Lab, University of Bristol, School of Cellular and Molecular Medicine, Bristol, UK.
contact emailborko.amulic@bristol.ac.uk
lab head
Borko Amulic
contact affiliationUniversity of Bristol
contact emailborko.amulic@bristol.ac.uk
dataset submitter
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Dataset FTP location
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PRIDE project URI
Repository Record List
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