ArticleEMBO molecular medicine2014
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies.
Article in EMBO molecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 115 citations in OpenAlex.
- Evaluation of a serum protein signature as monitoring biomarker for Duchenne muscular dystrophy in a long-term clinical trial with corticosteroids.Skeletal muscle · 2026Trial
- Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies.The Journal of pathology · 2026Article
- Evaluation of a serum protein signature as monitoring biomarker for Duchenne Muscular Dystrophy in a long-term clinical trial with corticosteroids.medRxiv : the preprint server for health sciences · 2026Article
- Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.International journal of molecular sciences · 2025Review
- Serum protein biomarker signature of Duchenne muscular dystrophy.European journal of translational myology · 2025Article
- Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS.Skeletal muscle · 2025Article
- Universal Proteomic Signature After Exercise-Induced Muscle Injury in Muscular Dystrophies.Annals of clinical and translational neurology · 2025Article
- N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy.Skeletal muscle · 2024Article
- How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?Proteomes · 2024Article
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- Integrated genomic, proteomic and cognitive assessment in Duchenne Muscular Dystrophy suggest astrocyte centric pathology.Heliyon · 2023Article
- Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.Journal of proteome research · 2023Article
- Orthogonal proteomics methods warrant the development of Duchenne muscular dystrophy biomarkers.Clinical proteomics · 2023Article
- A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.International journal of molecular sciences · 2023Article
- Longitudinal Assessment of Creatine Kinase, Creatine/CreatinineNeurology · 2023Article
- Biomarkers in Duchenne Muscular Dystrophy: Current Status and Future Directions.Journal of neuromuscular diseases · 2023Review
- Proteomics in Inherited Metabolic Disorders.International journal of molecular sciences · 2022Review
- Biomarkers in Duchenne Muscular Dystrophy.Current heart failure reports · 2022Review
- Circulating proteins reveal prior use of menopausal hormonal therapy and increased risk of breast cancer.Translational oncology · 2022Article
- Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers.Histology and histopathology · 2022Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
23 authors at 11 institutions in 5 countries.
Funding
Abstract
Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. We addressed this challenge by combining samples collected within the BIO-NMD consortium from four geographically dispersed clinical sites to identify protein markers associated with muscular dystrophy using an antibody bead array platform with 384 antibodies. Based on concordance in statistical significance and confirmatory results obtained from analysis of both serum and plasma, we identified eleven proteins associated with muscular dystrophy, among which four proteins were elevated in blood from muscular dystrophy patients: carbonic anhydrase III (CA3) and myosin light chain 3 (MYL3), both specifically expressed in slow-twitch muscle fibers and mitochondrial malate dehydrogenase 2 (MDH2) and electron transfer flavoprotein A (ETFA). Using age-matched sub-cohorts, 9 protein profiles correlating with disease progression and severity were identified, which hold promise for the development of new clinical tools for management of dystrophinopathies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.