PR001767 (Project)

Id Namespace:

UCSD Metabolomics Workbench

Identifier Namespace (Entity type)

Dcc Asset:

MW submission packet 20250922.zip

Processed File (Entity type)

Dcc:

Metabolomics

DCC (Entity type)

Persistent Id:http://dx.doi.org/10.21228/M89H98

Description: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.

Results found

Linked to

	Label	Description
	PPR00001 Project (Entity type)	Metabolomics
	SU002934 Subject (Entity type)	A subject from Metabolomics produced as part of the PR001767 project
	SA305687 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305654 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305664 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305680 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305730 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305723 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305706 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project
	SA305672 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001767 project

PPR00001

Project (Entity type)

Metabolomics

SU002934

Subject (Entity type)

A subject from Metabolomics produced as part of the PR001767 project

SA305687

Biosample (Entity type)