PR002242 (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/M8TK06

Description:Our study identified 23 unique variants in PSMC5, which encodes the AAA-ATPase proteasome subunit PSMC5/Rpt6, causing syndromic Neurodevelopmental Disorder (NDD) in 38 unrelated individuals. PSMC5 loss-of-function resulted in abnormal protein aggregation, profoundly affecting innate immune signaling, mitophagy rate, and lipid metabolism in affected individuals’ samples. These findings deepen our understanding of the molecular mechanisms underlying neurodevelopmental proteasomopathies and link these disorders with neurodegenerative disease research.

Results found

Linked to

	Label	Description
	SA393485 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393495 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393499 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393512 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393503 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393487 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393514 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393497 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393498 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project
	SA393492 Biosample (Entity type)	A biosample from Metabolomics produced as part of the PR002242 project