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    Emerging proteomic biomarkers of X-linked muscular dystrophy.

    Dowling, Paul and Murphy, Sandra and Zweyer, Margit and Raucamp, Maren and Swandulla, Dieter and Ohlendieck, Kay (2019) Emerging proteomic biomarkers of X-linked muscular dystrophy. Expert Review of Molecular Diagnostics, 19 (8). pp. 739-755. ISSN 1473-7159

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    Introduction: Progressive skeletal muscle wasting is the manifesting symptom of Duchenne muscular dystrophy, an X-linked inherited disorder triggered by primary abnormalities in the DMD gene. The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system. Areas covered: This review focuses on the mass spectrometry-based proteomic characterization of X-linked muscular dystrophy with special emphasis on the identification of novel biomarker candidates in skeletal muscle tissues, as well as non-muscle tissues and various biofluids. Individual sections focus on molecular and cellular aspects of the pathogenic changes in dystrophinopathy, proteomic workflows used in biomarker research, the proteomics of the dystrophin-glycoprotein complex and the potential usefulness of newly identified protein markers involved in fibre degeneration, fibrosis and inflammation. Expert opinion: The systematic application of large-scale proteomic surveys has identified a distinct cohort of both tissue- and biofluid-associated protein species with considerable potential for improving diagnostic, prognostic and therapy-monitoring procedures. Novel proteomic markers include components involved in fibre contraction, cellular signalling, ion homeostasis, cellular stress response, energy metabolism and the immune response, as well as maintenance of the cytoskeletal and extracellular matrix.

    Item Type: Article
    Additional Information: Cite as: Paul Dowling, Sandra Murphy, Margit Zweyer, Maren Raucamp, Dieter Swandulla & Kay Ohlendieck (2019) Emerging proteomic biomarkers of X-linked muscular dystrophy, Expert Review of Molecular Diagnostics, 19:8, 739-755, DOI: 10.1080/14737159.2019.1648214
    Keywords: Biofluid; biomarker; Duchenne muscular dystrophy; dystrophinopathy; liquid biopsy; muscle biopsy;
    Academic Unit: Faculty of Science and Engineering > Biology
    Item ID: 13570
    Identification Number:
    Depositing User: Paul Dowling
    Date Deposited: 18 Nov 2020 16:13
    Journal or Publication Title: Expert Review of Molecular Diagnostics
    Publisher: Taylor and Francis
    Refereed: Yes
    Use Licence: This item is available under a Creative Commons Attribution Non Commercial Share Alike Licence (CC BY-NC-SA). Details of this licence are available here

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