PXD038815 is an
original dataset announced via ProteomeXchange.
Dataset Summary
| Title | Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARš¯›¾ signaling |
| Description | PLAAT3 is a phospholipid modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome as Plaat3 deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with homozygous loss-of-function variants in PLAAT3, presenting a severe lipodystrophy syndrome (LS) associated with metabolic complications, as well as neurological features including demyelinating neuropathy and intellectual disability. Multi-omics analysis of mouse Plaat3-/- and patient-derived WAT showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in the signaling of PPARš¯›¾, the master regulator of adipocyte differentiation. The present dataset describes the proteomics shotgun analysis of WAT samples from Plaat3-/- and Plaat3-/+ mice. We found that proteins involved in fatty acid metabolic and lipid biosynthetic processes were less abundant in Plaat3-/- WAT, whereas proteins involved in autophagy and catabolism were more abundant. In line with transcriptomics data obtained from mice and human WAT, PPARš¯›¾ and its coactivators were identified as strong transcriptional regulators within the set of downregulated proteins. Along with validation experiments in PLAAT3-deficient human adipose stem cells, these findings establish PLAAT3 deficiency as a novel hereditary LS with neurological manifestations, caused by a PPARš¯›¾-dependent defect in WAT differentiation and function. |
| HostingRepository | PRIDE |
| AnnounceDate | 2024-10-22 |
| AnnouncementXML | Submission_2024-10-22_06:02:06.538.xml |
| DigitalObjectIdentifier | https://dx.doi.org/10.6019/PXD038815 |
| ReviewLevel | Peer-reviewed dataset |
| DatasetOrigin | Original dataset |
| RepositorySupport | Supported dataset by repository |
| PrimarySubmitter | Sara Dufour |
| SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; |
| ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
| Instrument | Orbitrap Fusion Lumos |
Dataset History
| Revision | Datetime | Status | ChangeLog Entry |
|---|
| 0 | 2022-12-13 22:59:26 | ID requested | |
| 1 | 2023-08-29 04:43:30 | announced | |
| 2 | 2023-11-14 07:56:33 | announced | 2023-11-14: Updated project metadata. |
| ⏵ 3 | 2024-10-22 06:02:06 | announced | 2024-10-22: Updated project metadata. |
Publication List
Keyword List
| submitter keyword: Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARš¯›¾ signaling |
Contact List
| Bart Dermaut |
|---|
| contact affiliation | 1Center for Medical Genetics, Ghent University Hospital, Ghent, 9000, Belgium 2Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent |
| contact email | bart.dermaut@ugent.be |
| lab head | |
| Sara Dufour |
|---|
| contact affiliation | VIB-UGent |
| contact email | sara.dufour@vib-ugent.be |
| dataset submitter | |
Full Dataset Link List
Dataset FTP location
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| PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD038815
- Label: PRIDE project
- Name: Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARš¯›¾ signaling
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