{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Athamneh M"],"funding":["AFM telethon","Deutsche Gesellschaft für Muskelkranke","European Regional Development Fund"],"pagination":["e18122"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11037410"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["28(8)"],"pubmed_abstract":["Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further validated by muscle-immunostainings unravelling HNRNPDL as a protein showing differences between V"],"journal":["Journal of cellular and molecular medicine"],"pubmed_title":["Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers."],"pmcid":["PMC11037410"],"funding_grant_id":["21644","LiBi‐NME","LiBi-NME","NME‐GPS","NME-GPS"],"pubmed_authors":["Athamneh M","Gangfuss A","Sickmann A","Daya N","Marina AD","Schara-Schmidt U","Guttsches AK","Ruck T","Preusse C","Vorgerd M","Hentschel A","Deschauer M","Roos A"],"additional_accession":[]},"is_claimable":false,"name":"Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.","description":"Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics. Four proteins, BET1, HNRNPDL, NEFM and PHGDH, known to be involved in neurological diseases and dysregulated in WBC were further validated by muscle-immunostainings unravelling HNRNPDL as a protein showing differences between V","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-04-22T03:28:38.745Z","creation":"2026-04-22T03:13:29.043Z"},"accession":"S-EPMC11037410","cross_references":{"pubmed":["38652110"],"doi":["10.1111/jcmm.18122"]}}