PXD031936
PXD031936 is an original dataset announced via ProteomeXchange.
Dataset Summary
Title | Spatial centrosome proteome of human neural cells uncovers novel interactors and disease hubs |
Description | Despite the crucial importance of the centrosome in brain development and disease, its comprehensive proteome remains uncharacterized in neural cells. Here, we used spatial proteomics to elucidate protein interaction networks at the centrosome of iPSC-derived human neural stem cells (NSCs) and neurons. Centrosome-associated proteins were largely cell type-specific, with protein hubs involved in RNA dynamics. Analysis of neurodevelopmental disease cohorts identified a significant overrepresentation of NSC centrosome proteins with variants in patients with periventricular heterotopia (PH). Expressing the PH-associated mutant splicing factor PRPF6 reproduced the periventricular misplacement in the developing mouse brain, highlighting mis-splicing of transcripts of the MAP-kinase SAD-A at centrosomal location as essential for the phenotype. Collectively, cell type-specific centrosome interactomes explain how genetic variants in ubiquitous proteins may convey brain-specific phenotypes. |
HostingRepository | PRIDE |
AnnounceDate | 2023-11-14 |
AnnouncementXML | Submission_2023-11-14_08:55:54.413.xml |
DigitalObjectIdentifier | https://dx.doi.org/10.6019/PXD031936 |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Supported dataset by repository |
PrimarySubmitter | Fatma Uzbas |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | acetylated residue; monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue |
Instrument | Q Exactive HF |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
---|---|---|---|
0 | 2022-02-28 03:33:56 | ID requested | |
1 | 2022-06-22 03:41:57 | announced | |
⏵ 2 | 2023-11-14 08:55:55 | announced | 2023-11-14: Updated project metadata. |
Publication List
O'Neill AC, Uzbas F, Antognolli G, Merino F, Draganova K, J, ä, ck A, Zhang S, Pedini G, Schessner JP, Cramer K, Schepers A, Metzger F, Esgleas M, Smialowski P, Guerrini R, Falk S, Feederle R, Freytag S, Wang Z, Bahlo M, Jungmann R, Bagni C, Borner GHH, Robertson SP, Hauck SM, G, ö, tz M, Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity. Science, 376(6599):eabf9088(2022) [pubmed] |
10.6019/PXD031936; |
Keyword List
submitter keyword: neuron, neural stem cells, neurodevelopmental disorder, human brain, RNA splicing,Centrosome, interactome |
Contact List
Prof. Dr. Magdalena Goetz | |
---|---|
contact affiliation | Department of Physiological Genomics, Biomedical Center, Ludwig-Maximilians University, Germany |
contact email | magdalena.goetz@helmholtz-muenchen.de |
lab head | |
Fatma Uzbas | |
contact affiliation | Institute of Stem Cell Research, Helmholtz Center Munich |
contact email | fatma.uzbas@helmholtz-muenchen.de |
dataset submitter |
Full Dataset Link List
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/2022/06/PXD031936 |
PRIDE project URI |
Repository Record List
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