Summary of project PR001498
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 PR001498. The data can be accessed directly via it's Project DOI: 10.21228/M83D9C This work is supported by NIH grant, U2C- DK119886.
See: https://www.metabolomicsworkbench.org/about/howtocite.php
| 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 |
| Email: | jacquemynjulie@ualberta.ca |
| Phone: | 5873409325 |
Summary of all studies in project PR001498
| Study ID | Study Title | Species | Institute | Analysis(* : Contains Untargted data) | Release Date | Version | Samples | Download(* : 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) |
