Summary of project PR001767

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, where it has been assigned Project ID PR001767. The data can be accessed directly via it's Project DOI: 10.21228/M89H98 This work is supported by NIH grant, U2C- DK119886.


Project ID: PR001767
Project DOI:doi: 10.21228/M89H98
Project Title:Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Project Summary:The course of pathophysiological mechanisms involved in fragile X-associated tremor/ataxia syndrome (FXTAS) remains largely unknown. Previous proteomics and metabolomics studies conducted in blood samples collected from FMR1 premutation carriers with FXTAS reported abnormalities in energy metabolism, and precursors of gluconeogenesis showed significant changes in plasma expression levels in FMR1 premutation carriers who developed FXTAS. We conducted an analysis of postmortem human brain tissues from 44 donors, 25 brains with FXTAS, and 19 matched controls. We quantified the metabolite relative abundance in the inferior temporal gyrus and the cerebellum using untargeted mass spectrometry (MS)-based metabolomics. We investigated how the metabolite type and abundance relate to the number of cytosine-guanine-guanine (CGG) repeats, to markers of neurodegeneration, and to the symptoms of FXTAS.
Institute:UC Davis
Last Name:Martínez-Cerdeño
First Name:Verónica
Address:2425 Stockton Blvd, 6th Floor, Sacramento, CA 95817

Summary of all studies in project PR001767

Study IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)
(* : Contains raw data)
ST002825 Brain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Homo sapiens University of California, Davis MS 2023-09-19 1 82 Uploaded data (884.9M)*