PXD047157

PXD047157 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	SEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
Description	SEPN1-related myopathy depends on the oxidoreductase ERO1 alpha and is druggable with the chemical chaperone TUDCA
HostingRepository	PRIDE
AnnounceDate	2024-05-24
AnnouncementXML	Submission_2024-05-24_01:01:23.186.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD047157
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	angela cattaneo
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	N-ethylmaleimide derivatized cysteine; acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2023-11-22 01:32:45	ID requested
⏵ 1	2024-05-24 01:01:24	announced

Publication List

Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Cal, ì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E, SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA. Cell Rep Med, 5(3):101439(2024) [pubmed]
10.1016/j.xcrm.2024.101439;
10.6019/PXD047157;

Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Cal, ì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E, SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA. Cell Rep Med, 5(3):101439(2024) [pubmed]

10.1016/j.xcrm.2024.101439;

10.6019/PXD047157;

Keyword List

submitter keyword: TUDCA, multi mini-core disease,ER stress, ERO1, SEPN1, core myopathy

submitter keyword: TUDCA, multi mini-core disease,ER stress, ERO1, SEPN1, core myopathy

Contact List

Angela Bachi
contact affiliation	IFOM
contact email	angela.bachi@ifom.eu
lab head
angela cattaneo
contact affiliation	Cogentech SRL Benefit Corporation
contact email	angela.cattaneo@cogentech.it
dataset submitter

Full Dataset Link List

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/2024/05/PXD047157
PRIDE project 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://ftp.pride.ebi.ac.uk/pride/data/archive/2024/05/PXD047157

PRIDE project URI

Repository Record List

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