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@ARTICLE{Dowling:280973,
      author       = {Dowling, Paul and Negroni, Elisa and Trollet, Capucine and
                      Zweyer, Margit and Swandulla, Dieter and Ohlendieck, Kay},
      title        = {{S}erum protein biomarker signature of {D}uchenne muscular
                      dystrophy.},
      journal      = {European journal of translational myology},
      volume       = {35},
      number       = {2},
      issn         = {2037-7452},
      address      = {Padova},
      publisher    = {Unipress},
      reportid     = {DZNE-2025-01055},
      pages        = {13956},
      year         = {2025},
      abstract     = {In contrast to invasive skeletal muscle biopsies and the
                      associated complexity of tissue sampling techniques and
                      potential detrimental side effects, the alternative
                      application of liquid biopsy procedures has considerable
                      advantages concerning minimal invasiveness, repeated
                      sampling options, assay robustness and cost effectiveness.
                      This article outlines the current status of serum biomarkers
                      used for diagnosing and characterizing Duchenne muscular
                      dystrophy (DMD), a primary muscle wasting disease of early
                      childhood due to primary abnormalities in the extremely
                      large DMD gene. Reviewed are important aspects of the
                      discovery, characterization and diagnostic value of
                      biofluid-based protein markers of dystrophinopathy. This
                      includes an overview of traditional general skeletal muscle
                      damage markers, such as creatine kinase, myoglobin and
                      lactate dehydrogenase, which have been used for many decades
                      in clinical applications to evaluate patients with muscular
                      weakness. In addition, this article outlines the biochemical
                      identification of novel biomarker candidates focusing on the
                      usage of mass spectrometry-based proteomic surveys to
                      establish comprehensive profiles of protein alterations in
                      dystrophinopathy. Pathoproteomic serum markers of
                      myonecrosis with great potential for improved patient
                      screening, differential diagnosis, stage-specific prognosis
                      and therapeutic monitoring include specific isoforms of
                      muscle-derived cytosolic proteins, such as carbonic
                      anhydrase isoform CA3 and fatty acid binding protein FABP3,
                      as well as sarcomeric proteins, including specific isoforms
                      of myosin light chain, myosin binding protein, troponin, and
                      myomesin, in addition to peptide fragments derived from the
                      giant protein titin. Biofluid-associated marker proteins of
                      reactive myofibrosis include the extracellular matrix
                      proteins fibronectin, osteopontin, collagen and
                      matrix-metalloproteinases.},
      cin          = {AG Salomoni},
      ddc          = {610},
      cid          = {I:(DE-2719)1013032},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40438995},
      pmc          = {pmc:PMC12265423},
      doi          = {10.4081/ejtm.2025.13956},
      url          = {https://pub.dzne.de/record/280973},
}