PXD033385

PXD033385 is an original dataset announced via ProteomeXchange.

Title	Identifying sacsin interactors. Defining quantitative alterations of the cerebellar proteome in the absence of sacsin.
Description	Sacsin is a huge protein highly expressed in neurons, whose function is still largely unknown. To gain insights into sacsin role in neurons, we performed immunoprecipitation of endogenous sacsin in SH-SY5Y cells differentiated into neurons followed by LC-MS/MS of eluates to identify its interactors. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS gene encoding sacsin.ARSACS patients and mouse models display early degeneration of cerebellum in agreement with high sacsin expression in this organ. We performed unbiased LFQ proteomics of cerebella from Sacs KO mice versus controls (5 months of age) to dissect the mechanisms underlying cerebellar degeneration in ARSACS.
HostingRepository	PRIDE
AnnounceDate	2025-05-13
AnnouncementXML	Submission_2025-05-13_06:06:29.636.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Michele Bianchi
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090; scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF; Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2022-04-23 15:24:09	ID requested
⏵ 1	2025-05-13 06:06:30	announced

10.1172/jci.insight.163576;

Del Bondio A, Longo F, De Ritis D, Spirito E, Podini P, Brais B, Bachi A, Quattrini A, Maltecca F, Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model. JCI Insight, 8(12):(2023) [pubmed]

submitter keyword: cerebellum, Human, sacsin, Mouse,ARSACS

Angela Bachi
contact affiliation	IFOM
contact email	angela.bachi@ifom.eu
lab head
Michele Bianchi
contact affiliation	Cogentech
contact email	michele.bianchi@cogentech.it
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/2025/05/PXD033385

PRIDE project URI

• PRIDE
  1. PXD033385
     1. Label: PRIDE project
     2. Name: Identifying sacsin interactors. Defining quantitative alterations of the cerebellar proteome in the absence of sacsin.