PXD040226

PXD040226 is an original dataset announced via ProteomeXchange.

Title	Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
Description	Pathogenic bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix were recently linked to the manifestation of a neuromuscular disorder with manifestation in child- or adulthood. Myopathological and neurophysiological findings in patients are indicative of combined neurogenic and myopathic pathology classified as neuromyopathy presenting with muscle weakness (predominantly of the lower limbs) as a key clinical feature. Given that pathophysiological processes are still incompletely understood and biomarkers for this disease are still missing, we aimed to identify blood biomarkers of pathophysiological relevance. To this end, white blood cells (WBC) and plasma derived from six patients from two unrelated families were investigated by mass spectrometry. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further confirmed by immunostaining studies on muscle biopsies derived from two VWA1-patients.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:42:42.081.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Andreas Hentschel
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive HF; Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2023-02-17 02:26:09	ID requested
1	2024-05-24 03:09:55	announced
⏵ 2	2024-10-22 06:42:46	announced	2024-10-22: Updated project metadata.

Athamneh M, Daya N, Hentschel A, Gangfuss A, Ruck T, Marina AD, Schara-Schmidt U, Sickmann A, G, ü, ttsches AK, Deschauer M, Preusse C, Vorgerd M, Roos A, Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers. J Cell Mol Med, 28(8):e18122(2024) [pubmed]

10.1111/jcmm.18122;

submitter keyword: PHGDH, NEFM, white blood cell proteomics, HNRNPDL,BET1

Andreas Hentschel
contact affiliation	Proteomics, Biomarker, Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany
contact email	andreas.hentschel@isas.de
lab head
Andreas Hentschel
contact affiliation	Leibniz Institut für Analytische Wissenschaften
contact email	andreas.hentschel@isas.de
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/2024/05/PXD040226

PRIDE project URI

• PRIDE
  1. PXD040226
     1. Label: PRIDE project
     2. Name: Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers