PXD071917-1

PXD071917 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Mitochondrial dysfunction in Nemaline myopathy type 6
Description	Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in KBTBD13...
HostingRepository	PRIDE
AnnounceDate	2026-06-29
AnnouncementXML	Submission_2026-06-28_16:29:07.315.xml
DigitalObjectIdentifier	https://doi.org/10.6019/PXD071917
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Rianne Baelde
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: NEWT:10090;
ModificationList	No PTMs are included in the dataset
Instrument	timsTOF Pro 2

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2025-12-12 08:01:26	ID requested
⏵ 1	2026-06-28 16:29:08	announced

Publication List

10.6019/PXD071917;
10.1093/hmg/ddag023;
Baelde RJ, Vonk LA, Nollet EE, Galli RA, Monteiro AF, Bastu S, Das B, van Weeghel M, Schomakers BV, Vinten KT, van den Berg M, van der Velden J, Houtkooper RH, Voermans NC, Malfatti E, Ottenheijm CAC, de Winter JM, Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. Hum Mol Genet, 35(12):(2026) [pubmed]

10.6019/PXD071917;

10.1093/hmg/ddag023;

Baelde RJ, Vonk LA, Nollet EE, Galli RA, Monteiro AF, Bastu S, Das B, van Weeghel M, Schomakers BV, Vinten KT, van den Berg M, van der Velden J, Houtkooper RH, Voermans NC, Malfatti E, Ottenheijm CAC, de Winter JM, Nicotinamide riboside prevents mitochondrial dysfunction in nemaline myopathy type 6. Hum Mol Genet, 35(12):(2026) [pubmed]

Keyword List

submitter keyword: Skeletal muscle soleus mice

submitter keyword: Skeletal muscle soleus mice

Contact List

Rianne Baelde
contact affiliation	Department of Physiology, Amsterdam university medical centre
contact email	g.j.baelde@amsterdamumc.nl
lab head
Rianne Baelde
contact affiliation	Amsterdam UMC
contact email	g.j.baelde@amsterdamumc.nl
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/2026/06/PXD071917
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/2026/06/PXD071917

PRIDE project URI

Repository Record List

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