Summary of project PR001498

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 PR001498. The data can be accessed directly via it's Project DOI: 10.21228/M83D9C This work is supported by NIH grant, U2C- DK119886.


Project ID: PR001498
Project DOI:doi: 10.21228/M83D9C
Project Title:Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1
Project Summary:Recent evidence links dysfunctional lipid metabolism to the pathogenesis of Parkinson’s disease, but the mechanisms are not resolved. Here, we generated a new Drosophila knock-in model of DNAJC6/Auxilin and find that the pathogenic mutation causes synaptic dysfunction, neurological defects and neurodegeneration, as well as specific lipid metabolism alterations. In these mutants, membrane lipids containing long-chain polyunsaturated fatty acids, including phosphatidylinositol lipid species that are key for synaptic vesicle recycling and organelle function, are reduced. Overexpression of another protein mutated in Parkinson’s disease, Synaptojanin-1, known to bind and metabolize specific phosphoinositides, rescues the DNAJC6/Auxilin lipid alterations, the neuronal function defects and neurodegeneration. Our work reveals a functional relation between two proteins mutated in Parkinsonism and implicates deregulated phosphoinositide metabolism in the maintenance of neuronal integrity and neuronal survival.
Institute:VIB-KU Leuven
Department:Department of Neurosciences
Laboratory:Laboratory of Neuronal Communication - Dr. Patrik Verstreken
Last Name:Jacquemyn
First Name:Julie
Address:Medical Sciences Building 7-25, Edmonton, Alberta, T6H 0L2, Canada

Summary of all studies in project PR001498

Study IDStudy TitleSpeciesInstituteAnalysis
(* : Contains Untargted data)
(* : Contains raw data)
ST002335 Pathogenic Auxilin mutations affect lipids that are critical to Synaptojanin function Drosophila melanogaster VIB-KU Leuven MS 2022-11-21 1 32 Uploaded data (70.9K)