PXD033823

PXD033823 is an original dataset announced via ProteomeXchange.

Title	Sacsin, the ARSACS disease protein, controls lysosomal positioning and reformation by regulating microtubule dynamics
Description	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a fatal brain disorder featuring cerebellar neurodegeneration leading to spasticity and ataxia. ARSACS is caused by mutations in the SACS gene that encodes sacsin, a massive 4579 amino acid protein with multiple modular domains. Here we demonstrate that sacsin binds to microtubules and regulates microtubule dynamics. Loss of sacsin function in knockout cell lines, knockdown and knockout neurons, and patient fibroblasts leads to alterations in lysosomal transport, positioning, function and reformation following autophagy.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_07:34:34.271.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Vincent Francis
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2022-05-12 02:03:25	ID requested
1	2022-10-14 22:51:59	announced
⏵ 2	2023-11-14 07:34:35	announced	2023-11-14: Updated project metadata.

Francis V, Alshafie W, Kumar R, Girard M, Brais B, McPherson PS, The ARSACS disease protein sacsin controls lysosomal positioning and reformation by regulating microtubule dynamics. J Biol Chem, 298(9):102320(2022) [pubmed]

submitter keyword: Lysosome, ALR, Microtubule

Peter McPherson
contact affiliation	James McGill Professor, Montreal Neurological Institute, McGill University
contact email	peter.mcpherson@mcgill.ca
lab head
Vincent Francis
contact affiliation	McGill University
contact email	vincent.francis@mail.mcgill.ca
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/2022/10/PXD033823

PRIDE project URI

• PRIDE
  1. PXD033823
     1. Label: PRIDE project
     2. Name: Sacsin, the ARSACS disease protein, controls lysosomal positioning and reformation by regulating microtubule dynamics