Summary of Study ST002335

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.


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.

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Study IDST002335
Study TitlePathogenic Auxilin mutations affect lipids that are critical to Synaptojanin function
Study SummaryMass 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.
VIB-KU Leuven
Last NameJacquemyn
First NameJulie
AddressMedical Sciences Building 7-25, Edmonton, Alberta, T6H 0L2, Canada
Phone+1 (587) 3409325
Submit Date2022-10-27
Analysis Type DetailMS(Dir. Inf.)
Release Date2022-11-21
Release Version1
Julie Jacquemyn Julie Jacquemyn application/zip

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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