{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:27Z","timestamp":1790679207106,"version":"4.1.0"},"reference-count":63,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,2]],"date-time":"2020-05-02T00:00:00Z","timestamp":1588377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Vaincre les Maladies Lysosomales","award":["2018-1009"],"award-info":[{"award-number":["2018-1009"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) is used for disease diagnosis and monitoring. However, this biomarker is inconstantly increased in mild forms and in some female patients. Materials and Methods: We applied a targeted proteomic approach to explore disease-related biological patterns that might explain the disease pathophysiology. Forty proteins, involved mainly in inflammatory and angiogenesis processes, were assessed in 69 plasma samples retrieved from the French Fabry cohort (FFABRY) and from 83 healthy subjects. For predictive performance assessment, we also included other LD samples (Gaucher, Pompe and Niemann Pick C). Results: The study yielded four discriminant proteins that include three angiogenesis proteins (fibroblast growth factor 2 (FGF2), vascular endothelial growth factor A (VEGFA), vascular endothelial growth factor C (VEGFC)) and one cytokine interleukin 7 (IL-7). A clear elevation of FGF2 and IL-7 concentrations was observed in FD compared to other LD samples. No correlation was observed between these proteins and globotriaosylsphingosine (LysoGb3). A significant correlation exists between IL-7 and residual enzyme activity in a non-classical phenotype. This highlights the orthogonal biological information yielded by these proteins that might help in stratifying Fabry patients. Conclusion: This work highlights the potential of using proteomics approaches in exploring FD and enhancing FD diagnosis and therapeutic monitoring performances.<\/jats:p>","DOI":"10.3390\/jcm9051325","type":"journal-article","created":{"date-parts":[[2020,5,5]],"date-time":"2020-05-05T06:41:20Z","timestamp":1588660880000},"page":"1325","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"first","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wladimir","family":"Mauhin","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Groupe Hospitalier Diaconesses Croix Saint Simon, Paris, France &amp; INSERM U 974, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8644-2832","authenticated-orcid":false,"given":"Lenaig","family":"Abily-Donval","sequence":"additional","affiliation":[{"name":"Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France"},{"name":"Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Lesueur","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"},{"name":"Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc G.","family":"Berger","sequence":"additional","affiliation":[{"name":"CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, 63003 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, EA 7453 CHELTER, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann","family":"Nadjar","sequence":"additional","affiliation":[{"name":"Neurology Department, Reference center for Lysosomal Diseases, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Berger","sequence":"additional","affiliation":[{"name":"CHU Clermont-Ferrand, Hopital Estaing, CRB-Auvergne, 63003 Clermont-Ferrand, France"},{"name":"Universit\u00e9 Clermont Auvergne, EA 7453 CHELTER, 63000 Clermont-Ferrand, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Benveniste","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France &amp; INSERM U 974, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5104-2935","authenticated-orcid":false,"given":"Foudil","family":"Lamari","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, APHP-Sorbonne university, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"Neurology Department, H\u00f4pital Raymond-Poincar\u00e9, AP-HP, 92380 Garches, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Noel","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Centre Hospitalier Universitaire, 67000 Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2858-148X","authenticated-orcid":false,"given":"St\u00e9phane","family":"Marret","sequence":"additional","affiliation":[{"name":"Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, Rouen University Hospital, 76000 Rouen, France"},{"name":"Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lidove","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Groupe Hospitalier Diaconesses Croix Saint Simon, Paris, France &amp; INSERM U 974, 75014 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France"},{"name":"Normandie Univ, UNIROUEN, CHU Rouen, INSERM U1245, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical fabry disease: A multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J. 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