PXD030541

PXD030541 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Integrative organelle-based functional proteomics in ARSACS-focus on bioenergetics and autophagy
Description	Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disease characterized by early-onset spasticity in the lower limbs, axonal-demyelinating sensorimotor peripheral neuropathy, and cerebellar ataxia. Our understanding of the genetic basis, protein function and disease mechanisms of ARSACS have been only partially explored. The integrative use of organelle-based quantitative proteomics and whole genome analysis proposed in this study, allowed identifying affected pathways, upstream regulators, and disease and biological functions related to ARSACS, with a motivation for setting improved, early diagnostic strategies and to offer alternative treatment options in a rare condition without the cure. Our results deepen the evidence for the impairment of autophagy and mitochondrial dysfunction in SACS knockout lysosomes and mitochondrial compartment, anticipating putative candidate biomarkers related to organelle damage.
HostingRepository	MassIVE
AnnounceDate	2022-08-03
AnnouncementXML	Submission_2022-08-03_00:44:01.675.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Maciej Lalowski
SpeciesList	scientific name: Homo sapiens; common name: human; NCBI TaxID: 9606;
ModificationList	Deamidated; Oxidation; Carbamidomethyl
Instrument	Synapt G2-S HDMS

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2021-12-20 08:44:57	ID requested
⏵ 1	2022-08-03 00:44:02	announced

Publication List

Morani F, Doccini S, Galatolo D, Pezzini F, Soliymani R, Simonati A, Lalowski MM, Gemignani F, Santorelli FM, KO Cell Model. Biomolecules, 12(8):(2022) [pubmed]

Morani F, Doccini S, Galatolo D, Pezzini F, Soliymani R, Simonati A, Lalowski MM, Gemignani F, Santorelli FM, KO Cell Model. Biomolecules, 12(8):(2022) [pubmed]

Keyword List

submitter keyword: ARSACS, sacsin, KO models, omics, biomarkers, mitochondria, lysosomes

submitter keyword: ARSACS, sacsin, KO models, omics, biomarkers, mitochondria, lysosomes

Contact List

Maciej Lalowski
contact affiliation	Helsinki Institute for Life Science (HiLIFE) and Faculty of Medicine, Biochemistry/Developmental Biology, Meilahti Clinical Proteomics Core Facility, University of Helsinki, Helsinki, FI-00014
contact email	maciej.lalowski@helsinki.fi
lab head
Filippo M. Santorelli
contact affiliation	IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128 Pisa
contact email	filippo3364@gmail.com
lab head
Maciej Lalowski
contact affiliation	University of Helsinki/Medicum
contact email	maciej.lalowski@helsinki.fi
dataset submitter

Full Dataset Link List

MassIVE dataset URI
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://massive.ucsd.edu/MSV000088592/

MassIVE dataset URI

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://massive.ucsd.edu/MSV000088592/