PXD022310-1

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

no publication

Keyword List

submitter keyword: B12 deficiency, Ronin, mouse embryonic fibroblasts

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
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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/