PXD044554

PXD044554 is an original dataset announced via ProteomeXchange.

Title	Skeletal muscle proteomics underpin multifaceted mitochondrial dysfunction in Friedreich´s Ataxia
Description	Friedreich´s Ataxia (FRDA) is a severe neuromuscular disorder caused by a deficiency of the mitochondrial protein frataxin. While some aspects of FRDA pathology are developmental, the causes underlying the steady progression are unclear. The inaccessibility of key affected tissues to sampling is a main hurdle. Skeletal muscle displays a disease phenotype and may be sampled in vivo to address open questions on FRDA pathophysiology. We performed a mass spectrometry (MS)-based proteomics analysis in gastrocnemius skeletal muscle biopsies from genetically confirmed FRDA patients (n=5) and controls. Our data corroborate a predominant mitochondrial biosignature of FRDA, which extends beyond a mere oxidative phosphorylation failure. Skeletal muscle proteomics highlighted a derangement of mitochondrial architecture and maintenance pathways and an adaptative metabolic shift of contractile proteins. The present findings are relevant for the design of future therapeutic strategies and highlight the value of skeletal muscle -omics as disease state readout in FRDA.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:16:46.858.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Klaus Faserl
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	phosphorylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2023-08-14 03:16:44	ID requested
1	2023-12-04 10:24:17	announced
⏵ 2	2024-10-22 06:16:47	announced	2024-10-22: Updated project metadata.

10.3389/fnins.2023.1289027;

Indelicato E, Faserl K, Amprosi M, Nachbauer W, Schneider R, Wanschitz J, Sarg B, Boesch S, Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia. Front Neurosci, 17():1289027(2023) [pubmed]

submitter keyword: Friedreich´s Ataxia, skeletal muscle, mitochondria, frataxin

Klaus Faserl
contact affiliation	Institute of Medical Biochemistry, Protein Core Facility, Medical University of Innsbruck, Innsbruck, Austria
contact email	klaus.faserl@i-med.ac.at
lab head
Klaus Faserl
contact affiliation	Innsbruck Medical University, Biocenter
contact email	klaus.faserl@i-med.ac.at
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/2023/12/PXD044554

PRIDE project URI

• PRIDE
  1. PXD044554
     1. Label: PRIDE project
     2. Name: Skeletal muscle proteomics underpin multifaceted mitochondrial dysfunction in Friedreich´s Ataxia