Summary of project PR001759
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 PR001759. The data can be accessed directly via it's Project DOI: 10.21228/M8BH9K This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR001759 |
| Project DOI: | doi: 10.21228/M8BH9K |
| Project Title: | Metabolomic profiling of PMM2-CDG brain organoids |
| Project Summary: | PMM2-CDG is a rare inborn error of metabolism caused by deficiency of the PMM enzyme, which leads to impaired protein glycosylation. While the disorder has primarily neurological presentation, there is limited knowledge about the specific brain-related changes that result from PMM deficiency. Utilizing 3D brain organoids derived from individuals with PMM2-CDG, we identified abnormal glucose metabolism in PMM2-CDG organoids, indicating disturbances in metabolic utilization. |
| Institute: | Mayo Clinic |
| Last Name: | Radenkovic |
| First Name: | Silvia |
| Address: | 200 2nd Ave SW Rochester MN |
| Email: | radenkovic.silvia@mayo.edu |
| Phone: | 507(77) 6-6107 |
| Funding Source: | NIH, KU Leuven |
Summary of all studies in project PR001759
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST002812 | Metabolomic profiling of PMM2-CDG brain organoids - Part 1 | Homo sapiens | Mayo Clinic | MS | 2024-08-14 | 1 | 17 | Uploaded data (846.1M)* |
| ST002816 | Metabolomic profiling of PMM2-CDG brain organoids - Part 2 | Homo sapiens | Mayo Clinic | MS | 2024-08-14 | 1 | 21 | Uploaded data (1.1G)* |
