PXD057756 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy |
| Description | Phosphoglucomutase 1 (PGM1) enzyme plays a central role in metabolism, by bridging glycolysis, glycogen metabolism and glycosylation. PGM1 deficiency is a rare congenital disorder of glycosylation (CDG) known for its unusually high incidence of lethal cardiac complications. While the role of PGM1 in glycosylation has been partially elucidated, little is known about the role of PGM1 in the heart. Similarly, while the current therapy such as D-galactose supplementation is able to treat the glycosylation aspect of PGM1-deficiency, there is no treatment for the cardiac complications in this disorder. Therefore, there is a critical need to understand the role of PGM1 in the heart and propose new cardiac-specific therapies. Here, by leveraging multiomics approach on human induced pluripotent stem cell-derived cardiomyocytes (iCMs) from individuals with PGM1 deficiency, we show that PGM1 deficiency results in profound changes in energy metabolism and extracellular matrix (ECM). Moreover, by in silico drug repurposing, we identify several drug candidates that might treat cardiac failure possibly by upregulating energy metabolism and downregulating ECM and improve the clinical outcome in affected individuals. |
| HostingRepository | PRIDE |
| AnnounceDate | 2026-02-09 |
| AnnouncementXML | Submission_2026-02-08_16:44:16.768.xml |
| DigitalObjectIdentifier | |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Unsupported dataset by repository |
| PrimarySubmitter | Akhilesh Pandey |
| SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606; |
| ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
| Instrument | Orbitrap Fusion |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2024-11-11 10:03:51 | ID requested | |
| ⏵ 1 | 2026-02-08 16:44:19 | announced | |
Publication List
| Muffels IJJ, Budhraja R, Radenkovic S, Shah R, Pandey A, Morava E, Kozicz T, Are viral vector-mediated therapies compatible with aberrant glycosylation? Mol Ther Methods Clin Dev, 33(3):101540(2025) [pubmed] |
| 10.1016/j.omtm.2025.101540; |
Keyword List
| submitter keyword: Human, glycosylation, multiomics, cardiomyocytes, CDG, LC-MS/MS |
Contact List
| Akhilesh Pandey |
|---|
| contact affiliation | Department of Laboratory Medicine and Pathology Mayo Clinic, Rochester, Minnesota 55905 United States |
| contact email | Pandey.Akhilesh@mayo.edu |
| lab head | |
| Akhilesh Pandey |
|---|
| contact affiliation | Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905 |
| contact email | pandey.akhilesh@mayo.edu |
| 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/2026/02/PXD057756 |
| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD057756
- Label: PRIDE project
- Name: Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy
