Summary of Study ST002335
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
This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.
Study ID | ST002335 |
Study Title | Pathogenic Auxilin mutations affect lipids that are critical to Synaptojanin function |
Study Summary | Mass spectrometry was performed on heads of 15DO flies homogenized in 100 µl D-PBS (Dulbecco’s phosphate-buffered saline without Mg2+ and Ca2+) by Lipotype. Fifteen fly heads were pooled from three independent crosses for each analysis, and mass spectrometry was performed on n=7 for wild-type, n≥4 analyses for dAuxWT/WT, dAuxRG/RG, dAuxWT/F956x and dAuxRG/F956x and n=3 for dAuxWT/F956x and dAuxRG/F956x overexpressing Synj. |
Institute | VIB-KU Leuven |
Last Name | Jacquemyn |
First Name | Julie |
Address | Medical Sciences Building 7-25, Edmonton, Alberta, T6H 0L2, Canada |
jacquemynjulie@ualberta.ca | |
Phone | +1 (587) 3409325 |
Submit Date | 2022-10-27 |
Analysis Type Detail | LC-MS |
Release Date | 2022-11-21 |
Release Version | 1 |
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Project:
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 |