PXD022310
PXD022310 is an original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Proteome analysis of cblX syndrome |
| Description | CblX is a recently described X-linked variant of vitamin B12 (cobalamin) deficiency cblC type. While cblC is due to mutations in MMACHC, an enzyme in the cobalamin metabolic pathway, cblX is caused by mutations in the transcriptional cofactor HCFC1 and its obligate transcription factor partner RONIN. Since HCFC1 and RONIN jointly regulate MMACHC transcription, cblX patients suffer from low levels of MMACHC during development and thus develop a disease highly similar to cblC. Beyond this finding, there is little else known about the other genes de-regulated in cblX and the resulting pathophysiology. Therefore, we have generated a Ronin point mutation mouse model, which carries the same missense mutation observed in a cblX patient. We have found that our cblX mice exhibit several defects typically observed in cblC patients. To further discover the proteomic changes in cblX mice, we collected mouse embryonic fibroblasts (MEFs) and performed mass spectrometry experiments. |
| HostingRepository | MassIVE |
| AnnounceDate | 2021-11-16 |
| AnnouncementXML | Submission_2021-11-16_10:36:44.237.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Non peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Alexander Saltzman |
| SpeciesList | scientific name: Mus musculus; common name: house mouse; NCBI TaxID: 10090; |
| ModificationList | acetylated residue; L-methionine sulfoxide; DeStreak; deamidated L-asparagine; deamidated L-glutamine |
| Instrument | Orbitrap Fusion |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|---|---|---|
| 0 | 2020-11-03 04:29:57 | ID requested | |
| ⏵ 1 | 2021-11-16 10:36:44 | announced |
Publication List
| no publication |
Keyword List
| submitter keyword: B12 deficiency, Ronin, mouse embryonic fibroblasts |
Contact List
| Ross Poche | |
|---|---|
| contact affiliation | Baylor College of Medicine |
| contact email | poche@bcm.edu |
| lab head | |
| Alexander Saltzman | |
| contact affiliation | Baylor College of Medicine |
| contact email | saltzman@bcm.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.ucsd.edu/MSV000086402/ |
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