PXD001966 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | Proteomics insights into Infantile Neuronal Ceroid Lipofuscinosis (CLN1) point to the involvement of palmitoylation in the disease |
Description | Mutations in the depalmitoylation enzyme, palmitoyl protein thioesterase (PPT1), result in the early onset neurodegenerative disease known as Infantile Neuronal Ceroid Lipofuscinosis. Here, we provide proteomic evidence suggesting that PPT1 deficiency could be considered as a ciliopathy. An unbiased proteomic analysis of membranal brain proteins from neonate Ppt1 knock out and control mice revealed a list of 88 proteins with different expression levels. Among them, we identified Rab3IP, which is known to work in concert with Rab8 and Rab11 to regulated proper ciliogenesis. Surprisingly, PPT1 was observed to localize to cilia. Indeed, an unbiased proteomics analysis on isolated cilia revealed 660 proteins, which differed in their abundance between wild type and Ppt1 knock out. We demonstrate here that Rab3IP, Rab8 and Rab11 are palmitoylated proteins, and palmitoylation of Rab11 is required for proper intracellular localization. Most interestingly, cells and tissues from Ppt1-/- exhibited less ciliated cells and abnormally longer cilia with both acetylated tubulin and Rab3IP mis-distributed along the length of cilia. Overall, our results suggest a novel link between palmitoylated proteins, cilia organization and the pathophysiology of Neuronal Ceroid Lipofuscinosis. |
HostingRepository | PRIDE |
AnnounceDate | 2022-03-01 |
AnnouncementXML | Submission_2022-03-01_06:56:54.644.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Peter James |
SpeciesList | scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; |
ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
Instrument | LTQ Orbitrap Elite |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2015-03-24 07:48:47 | ID requested | |
⏵ 1 | 2022-03-01 06:56:54 | announced | |
Publication List
Dataset with its publication pending |
Keyword List
ProteomeXchange project tag: Bioinformatics Infrastructure for Life Sciences (BILS) network (Sweden) |
curator keyword: Biomedical |
submitter keyword: Palmitoylation, brain, disease |
Contact List
Peter James |
contact affiliation | Dpeartment of Immunotechnology, Lund University, Sweden |
contact email | peter.james@immun.lth.se |
lab head | |
Peter James |
contact affiliation | Lund University |
contact email | peter.james@immun.lth.se |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
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[ - ]
- PRIDE
- PXD001966
- Label: PRIDE project
- Name: Proteomics insights into Infantile Neuronal Ceroid Lipofuscinosis (CLN1) point to the involvement of palmitoylation in the disease