PXD049199

PXD049199 is an original dataset announced via ProteomeXchange.

Title	Proteomics and lipidomics analysis reveal lipid and calcium signalling as dysregulated pathways associated to sacsin loss
Description	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare uncurable neurodegenerative disease caused by mutation in SACS gene coding for sacsin, a large protein involved in protein homeostasis, mitochondrial function, cytoskeleton dynamics, autophagy, cell adhesion and vesicle trafficking. However, the pathogenetic mechanisms related to sacsin functions are still largely uncharacterized and therapies are lagging behind. To achieve further understanding in altered processes due to loss of sacsin, we used an untargeted proteomics approach in primary fibroblasts to compare protein profiles in ARSACS patients versus controls. Our analyses further confirmed an involvement of known biological pathways, also highlighting an implication of lipid component and calcium homeostasis in ARSACS.
HostingRepository	PRIDE
AnnounceDate	2024-07-03
AnnouncementXML	Submission_2024-07-03_02:07:38.606.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Nicoletta Di Giorgi
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	TripleTOF 5600

Revision	Datetime	Status	ChangeLog Entry
0	2024-02-06 06:37:13	ID requested
⏵ 1	2024-07-03 02:07:39	announced

10.3389/fnins.2024.1375299;

Galatolo D, Rocchiccioli S, Di Giorgi N, Dal Canto F, Signore G, Morani F, Ceccherini E, Doccini S, Santorelli FM, Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin. Front Neurosci, 18():1375299(2024) [pubmed]

submitter keyword: Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS,Proteomics, LC-MS/MS

Silvia Rocchiccioli
contact affiliation	Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy.
contact email	silvia.rocchiccioli@cnr.it
lab head
Nicoletta Di Giorgi
contact affiliation	Institute of Clinical Physiology, National Research Council, 56124 Pisa, Italy
contact email	nicoletta.digiorgi@gmail.com
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2024/07/PXD049199

PRIDE project URI

• PRIDE
  1. PXD049199
     1. Label: PRIDE project
     2. Name: Proteomics and lipidomics analysis reveal lipid and calcium signalling as dysregulated pathways associated to sacsin loss