PR001759 (Project)

Dcc Asset:

MW submission packet 20260310.zip

Processed File (Entity type)

Dcc:

Metabolomics

DCC (Entity type)

Child Project:

PPR00001

Project (Entity type)

Persistent Id:http://dx.doi.org/10.21228/M8BH9K

Description:PMM2-CDG is a rare inborn error of metabolism caused by deficiency of the PMM enzyme, which leads to impaired protein glycosylation. While the disorder has primarily neurological presentation, there is limited knowledge about the specific brain-related changes that result from PMM deficiency. Utilizing 3D brain organoids derived from individuals with PMM2-CDG, we identified abnormal glucose metabolism in PMM2-CDG organoids, indicating disturbances in metabolic utilization.

Results found

Linked to

	Label	Description
	SA302573 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SU002925 Subject (Entity type)	A subject produced as part of the PR001759 project
	SA301996 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SA302568 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SA301998 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SA302569 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SA302002 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	ST003019 Rawfiles.zip File (Entity type)	A 120 MB file from Metabolomics produced from OBI:0003110 as part of the PR001759 project
	SA302570 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project
	SA302000 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR001759 project