Summary of project PR002189
This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench, https://www.metabolomicsworkbench.org, where it has been assigned Project ID PR002189. The data can be accessed directly via it's Project DOI: 10.21228/M8P54B This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR002189 |
| Project DOI: | doi: 10.21228/M8P54B |
| Project Title: | Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy |
| Project Summary: | Phosphoglucomutase 1 (PGM1) plays a crucial role in linking glycolysis, glycogen metabolism, and glycosylation. Pathogenic variants in PGM1 cause a complex multisystem disease, associated with congenital disorder of glycosylation (PGM1-CDG) and lethal cardiac complications. While treatments exist for the glycosylation defect in PGM1-CDG, the cardiac symptoms persist. To investigate the cardiac-specific impact of PGM1 deficiency, we developed human-induced pluripotent stem cell-derived cardiomyocytes (iCMs) from PGM1-CDG individuals. |
| Institute: | Mayo Clinic |
| Last Name: | Radenkovic |
| First Name: | Silvia |
| Address: | 200 2nd Ave SW Rochester MN |
| Email: | silradenkovic@gmail.com |
| Phone: | 507(77) 6-6107 |
| Funding Source: | NIH |
Summary of all studies in project PR002189
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST003555 | Mitochondrial dysfunction is a driver of cardiac complications in PGM1-CDG with implications for therapy | Homo sapiens | Mayo Clinic | MS | 2025-11-03 | 1 | 16 | Uploaded data (948.7M)* |
