Summary of project PR002242

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 PR002242. The data can be accessed directly via it's Project DOI: 10.21228/M8TK06 This work is supported by NIH grant, U2C- DK119886.

See: https://www.metabolomicsworkbench.org/about/howtocite.php

Project ID: PR002242
Project DOI:doi: 10.21228/M8TK06
Project Title:Impact of human PSMC5 gene mutations on neuronal development
Project Summary: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.
Institute:Nantes Université
Department:Service de Génétique Médicale
Last Name:Sebastien
First Name:Kury
Address:F-44000 Nantes
Email:sebastien.kury@chu-nantes.fr
Phone:02 28 08 01 10
Funding Source:Agence Nationale de la Recherche ANR-21-CE17-0005
Publications:Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Contributors:Sébastien Küry et al.

Summary of all studies in project PR002242

Study IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)		 Release
Date		VersionSamplesDownload
(* : Contains raw data)
ST003629 Impact of human PSMC5 gene mutations on neuronal development: Lipid profiling of PSMC5 mutant T cells Homo sapiens Leibniz Institute for Plasma Science and Technology MS 2025-09-15 1 44 Uploaded data (21.4G)*
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