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 IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)
Release
Date
VersionSamplesDownload
(* : 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)*
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