Summary of project PR001581
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 PR001581. The data can be accessed directly via it's Project DOI: 10.21228/M8BD85 This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| Project ID: | PR001581 |
| Project DOI: | doi: 10.21228/M8BD85 |
| Project Title: | Frontotemporal Dementia Human Brain Lipidomics |
| Project Summary: | Frontotemporal dementia (FTD) lipidomic study of human brain from cases with GRN or C9orf72 mutations or controls. We aimed to determine how inherited mutations that cause FTD affect the brain lipidome. Both heterozygous GRN mutations and C9orf72 repeat expansions cause FTD with TDP-43 pathology, but GRN mutation carriers appear to have significant white matter pathology as seen by MRI. Our study uncovered significant loss of myelin sphingolipids in the heavily affected superior frontal white matter in both FTD groups, but GRN carriers show more severe myelin attrition than C9orf72 repeat expansion carriers. GRN carriers also showed selective increase in cholesterol esters and sphingosine in the less affected superior parietal white matter. |
| Institute: | The University of Sydney |
| Last Name: | Don |
| First Name: | Anthony |
| Address: | Office 3217, D17 Charles Perkins Centre, Camperdown, NSW, 2006, Australia |
| Email: | anthony.don@sydney.edu.au |
| Phone: | +61286275578 |
Summary of all studies in project PR001581
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : Contains raw data) |
|---|---|---|---|---|---|---|---|---|
| ST002452 | Lipidomic analysis of human brain from frontotemporal dementia cases of with GRN and C9orf72 mutations | Homo sapiens | The University of Sydney | MS | 2023-03-01 | 1 | 224 | Uploaded data (11.7G)* |
