Summary of project PR001939
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 PR001939. The data can be accessed directly via it's Project DOI: 10.21228/M8343B This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR001939 |
| Project DOI: | doi: 10.21228/M8343B |
| Project Title: | Metabolomic profiling of ALG13-CDG brain organoids |
| Project Summary: | ALG13-CDG is a rare inborn error of metabolism caused by deficiency of the ALG13 enzyme, which is believed to lead to impaired protein glycosylation. While the disorder has primarily neurological presentation, there is limited knowledge about the specific brain-related changes that result from ALG13 deficiency. We used 3D brain organoids derived from fibroblasts of the individuals with ALG13-CDG to probe the brain-specific metabolic changes in ALG13-CDG. |
| 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 PR001939
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST003121 | Metabolomic profiling of ALG13-CDG brain organoids | Homo sapiens | Mayo Clinic | MS | 2025-03-06 | 1 | 6 | Uploaded data (359.3M)* |
