PXD001966

PXD001966 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2015-03-24 07:48:47	ID requested
⏵ 1	2022-03-01 06:56:54	announced

Dataset with its publication pending

ProteomeXchange project tag: Bioinformatics Infrastructure for Life Sciences (BILS) network (Sweden)

curator keyword: Biomedical

submitter keyword: Palmitoylation, brain, disease

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

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PRIDE project URI

• PRIDE
  1. PXD001966
     1. Label: PRIDE project
     2. Name: Proteomics insights into Infantile Neuronal Ceroid Lipofuscinosis (CLN1) point to the involvement of palmitoylation in the disease