⮝ Full datasets listing
PXD067215
PXD067215 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Failure of endocytic flux in Donnai-Barrow Syndrome caused by LRP2 p.C1400R - A: Human Proteomics Files Deposition |
| Description | Donnai-Barrow Syndrome (DBS) arises from loss-of-function variants in the endocytic receptor LRP2/megalin and is characterized by low molecular weight (LMW) proteinuria and neurologic developmental abnormalities. Urinary proteomics of nine DBS patients revealed that the urinary proteome of a DBS patient with the missense variant LRP2 p.C1400R is indistinguishable from that of patients with splice site, nonsense, or frameshift mutations. A CRISPR mouse model of the LRP2 missense variant was generated to determine the mechanism of proteinuria. The mutant LRP2 is expressed, dimerizes, and localizes correctly to the proximal tubule apical membrane. |
| HostingRepository | MassIVE |
| AnnounceDate | 2026-04-13 |
| AnnouncementXML | Submission_2026-04-13_08:13:22.760.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Supported dataset by repository |
| PrimarySubmitter | Hediye Erdjument-Bromage |
| SpeciesList | scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606; |
| ModificationList | No PTMs are included in the dataset |
| Instrument | Q Exactive HF |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2025-08-11 14:16:58 | ID requested | |
| ⏵ 1 | 2026-04-13 08:13:23 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: Donnai-Barrow Syndrome, LRP2/Megalin, protenuria, urinary proteomics, endocytosis, DatasetType:Proteomics |
Contact List
| Dr. Thomas A. Neubert | |
|---|---|
| contact affiliation | New York University School of Medicine |
| contact email | Thomas.Neubert@med.nyu.edu |
| lab head | |
| Dr. Jonathan Barasch | |
| contact affiliation | Columbia University |
| contact email | jmb4@cumc.columbia.edu |
| lab head | |
| Hediye Erdjument-Bromage | |
| contact affiliation | New York University School of Medicine |
| contact email | Hediye.Bromage@med.nyu.edu |
| dataset submitter | |
Full Dataset Link List
| MassIVE dataset URI |
| 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://massive-ftp.ucsd.edu/v10/MSV000098796/ |
