PXD033936 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Proteome analysis of HEK293 cells stably expressing wild-type and mutated AGAL enzyme |
| Description | Fabry disease is an X-linked condition caused by variants of the GLA gene that result in the absence or enzymatic deficiency of alpha-galactosidase A (AGAL). This enzyme defect leads to lysosomal storage of globotriaosylceramide (Gb3Cer) in a variety of cell types throughout the body and manifests as a multisystemic disease. We investigated changes in the proteome of HEK293 cells stably expressing WT and mutated alpha-galactosidase A enzyme (p.L394P and p.R112H) with a C-terminal FLAG tag. |
| HostingRepository | PRIDE |
| AnnounceDate | 2025-11-06 |
| AnnouncementXML | Submission_2025-11-06_03:41:00.134.xml |
| DigitalObjectIdentifier | https://dx.doi.org/10.6019/PXD033936 |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Supported dataset by repository |
| PrimarySubmitter | Pavel Talacko |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; |
| ModificationList | iodoacetamide derivatized residue |
| Instrument | Orbitrap Fusion |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2022-05-17 08:21:37 | ID requested | |
| ⏵ 1 | 2025-11-06 03:41:00 | announced | |
Publication List
Keyword List
| submitter keyword: alpha-galactosidase A,Fabry disease |
Contact List
| Stanislav Kmoch |
|---|
| contact affiliation | Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic |
| contact email | skmoch@lf1.cuni.cz |
| lab head | |
| Pavel Talacko |
|---|
| contact affiliation | BIOCEV, Faculty of Science, Charles University in Prague |
| contact email | pavel.talacko@natur.cuni.cz |
| 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/2025/11/PXD033936 |
| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD033936
- Label: PRIDE project
- Name: Proteome analysis of HEK293 cells stably expressing wild-type and mutated AGAL enzyme
