biostudies-literatureAthamneh MAFM telethonDeutsche Gesellschaft für MuskelkrankeEuropean Regional Development Funde18122https://www.ebi.ac.uk/biostudies/studies/S-EPMC11037410biostudies-literatureUnknown28(8)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 VJournal of cellular and molecular medicineProteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.PMC1103741021644LiBi‐NMELiBi-NMENME‐GPSNME-GPSAthamneh MGangfuss ASickmann ADaya NMarina ADSchara-Schmidt UGuttsches AKRuck TPreusse CVorgerd MHentschel ADeschauer MRoos AfalseProteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.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 V2024-01-01T00:00:00Z2024 Apr2026-04-22T03:28:38.745Z2026-04-22T03:13:29.043ZS-EPMC110374103865211010.1111/jcmm.18122