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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 <jats:italic>VWA1<\/jats:italic>\u2010patients 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\u2010immunostainings unravelling HNRNPDL as a protein showing differences between <jats:italic>VWA1<\/jats:italic>\u2010patients, healthy controls and patients suffering from neurogenic muscular atrophy and <jats:italic>BICD2<\/jats:italic>\u2010related neuromyopathy. Immunostaining studies of PHGDH indicate its involvement in apoptotic processes via co\u2010localisation with caspase\u20103. NEFM showed an increase in cells within the ECM in biopsies of all patients studied. Plasma proteomics unravelled dysregulation of 15 proteins serving as biomarker candidates among which a profound proportion of increased ones (6\/11) are mostly related to antioxidative processes and have even partially been described as blood biomarkers for other entities of neuromuscular disorders before. CRP elevated in plasma also showed an increase in the extracellular space of <jats:italic>VWA1<\/jats:italic>\u2010mutant muscle. Results of our combined studies for the first time describe pathophysiologically relevant biomarkers for <jats:italic>VWA1<\/jats:italic>\u2010related neuromyopathy and suggest that <jats:italic>VWA1<\/jats:italic>\u2010patient derived blood might hold the potential to study disease processes of clinical relevance, an important aspect for further preclinical studies.<\/jats:p>","DOI":"10.1111\/jcmm.18122","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T14:50:46Z","timestamp":1713883846000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Proteomic studies in <i>VWA1<\/i>\u2010related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers"],"prefix":"10.1111","volume":"28","author":[{"given":"Mohammed","family":"Athamneh","sequence":"first","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research University Hospital Bergmannsheil, Ruhr\u2010University Bochum  Bochum Germany"},{"name":"Department of Clinical Science, Faculty of Medicine Yarmouk University  Irbid Jordan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nassam","family":"Daya","sequence":"additional","affiliation":[{"name":"Department of Neurology, Heimer Institute for Muscle Research University Hospital Bergmannsheil, Ruhr\u2010University Bochum  Bochum Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften\u2010ISAS\u2010e.V.  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