PXD054347

PXD054347 is an original dataset announced via ProteomeXchange.

Title	Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome
Description	Pathogenic variants in CHRNE encoding the epsilon subunit of acetyl choline receptor (AChR) result in impaired neuromuscular transmission and congenital myasthenic syndromes (CMS). Clinical manifestations include facial, ocular and limb fatigability and weakness, whereby severity of symptoms may vary in patients harboring the same pathogenic variant. Although the underlying pathophysiology is well-known, blood biomarkers enabling a patient-stratification are lacking. Previous studies revealed CHRNE protein in white blood cells (WBC) rendering these cells suitable for the study of cellular and minimal-invasive marker proteins.
HostingRepository	PRIDE
AnnounceDate	2025-05-07
AnnouncementXML	Submission_2025-05-07_00:08:24.417.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; timsTOF

Revision	Datetime	Status	ChangeLog Entry
0	2024-07-29 07:24:58	ID requested
⏵ 1	2025-05-07 00:08:25	announced

10.1186/s40478-025-01946-9;

Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, K, ö, lbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochm, ü, ller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A, Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome. Acta Neuropathol Commun, 13(1):29(2025) [pubmed]

submitter keyword: CMS miRNA, CMS metabolites,CMS biomarkers, PLEC, CMS extracellular vesicles, CMS white blood cells, CMS amino acids

Prof. Dr. Albert Sickmann
contact affiliation	Proteomics, Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Dortmund, Germany
contact email	Albert.Sickmann@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/2025/05/PXD054347

PRIDE project URI

• PRIDE
  1. PXD054347
     1. Label: PRIDE project
     2. Name: Blood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome