PXD023866

PXD023866 is an original dataset announced via ProteomeXchange.

Title	C9ORF72 repeat expansion affects the proteome of primary skin fibroblasts in ALS and FTD
Description	The study design involves the proteomics characterization of primary skin fibroblast cell lines derived from skin biopsies from patients affected by either amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). Patients enrolled were divided in three groups: 1) ALS patients carrying the C9ORF72 repeat expansion as main genetic mutation (c9orf72 pos; n=6), 2) sporadic ALS patients, carrying mutations other than the C9ORF72 repeat expansion (c9orf72 neg; n=8), 3) FTD patients carrying the C9ORF72 repeat expansion (FTD; n=2). Total protein extracts were obtained from primary skin fibroblasts cultures and trypsin digested. Shotgun proteomics by LC-MS/MS (two technical replicates per sample) and systems biology analyses were performed as follows
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_05:29:53.379.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD023866
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Luisa Pieroni
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Synapt MS

Revision	Datetime	Status	ChangeLog Entry
0	2021-01-28 04:06:33	ID requested
1	2021-11-02 04:56:36	announced
⏵ 2	2024-10-22 05:29:54	announced	2024-10-22: Updated project metadata.

10.6019/PXD023866;

10.3390/ijms221910385;

Lualdi M, Shafique A, Pedrini E, Pieroni L, Greco V, Castagnola M, Cucina G, Corrado L, Di Pierro A, De Marchi F, Camillo L, Colombrita C, D'Anca M, Alberio T, D'Alfonso S, Fasano M, Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS. Int J Mol Sci, 22(19):(2021) [pubmed]

submitter keyword: Human, HDMSe, ALS,Fibroblast

Luisa Pieroni
contact affiliation	Proteomics and Metabonomics Laboratory,Experimental Neuroscience Department, IRCCS-S.Lucia Foundation, Roma , Italy
contact email	l.pieroni@hsantalucia.it
lab head
Luisa Pieroni
contact affiliation	Proteomic and Metabolomic Unit, IRCCS-S.Lucia Foundation, Roma
contact email	l.pieroni@hsantalucia.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/2021/11/PXD023866

PRIDE project URI

• PRIDE
  1. PXD023866
     1. Label: PRIDE project
     2. Name: C9ORF72 repeat expansion affects the proteome of primary skin fibroblasts in ALS and FTD