{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:06:26Z","timestamp":1790820386554,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:00:00Z","timestamp":1596758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["15RAR3\u20100004\u201006"],"award-info":[{"award-number":["15RAR3\u20100004\u201006"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Bikunin (Bkn) isoforms are serum chondroitin sulfate (CS) proteoglycans synthesized by the liver. They include two light forms, that is, the Bkn core protein and the Bkn linked to the CS chain (urinary trypsin inhibitor [UTI]), and two heavy forms, that is, pro\u2010\u03b1\u2010trypsin inhibitor and inter\u2010\u03b1\u2010trypsin inhibitor, corresponding to UTI esterified by one or two heavy chains glycoproteins, respectively. We previously showed that the Western\u2010blot analysis of the light forms could allow the fast and easy detection of patients with linkeropathy, deficient in enzymes involved in the synthesis of the initial common tetrasaccharide linker of glycosaminoglycans. Here, we analyzed all serum Bkn isoforms in a context of congenital disorders of glycosylation (CDG) and showed very specific abnormal patterns suggesting potential interests for their screening and diagnosis. In particular, genetic deficiencies in V\u2010ATPase (ATP6V0A2\u2010CDG, CCDC115\u2010CDG, ATP6AP1\u2010CDG), in Golgi manganese homeostasis (TMEM165\u2010CDG) and in the <jats:italic>N<\/jats:italic>\u2010acetyl\u2010glucosamine Golgi transport (SLC35A3\u2010CDG) all share specific abnormal Bkn patterns. Furthermore, for each studied linkeropathy, we show that the light abnormal Bkn could be further in\u2010depth characterized by two\u2010dimensional electrophoresis. Moreover, besides being interesting as a specific biomarker of both CDG and linkeropathies, Bkn isoforms' analyses can provide new insights into the pathophysiology of the aforementioned diseases.<\/jats:p>","DOI":"10.1002\/jimd.12291","type":"journal-article","created":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T09:55:45Z","timestamp":1595498145000},"page":"1349-1359","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies"],"prefix":"10.1002","volume":"43","author":[{"given":"Walid","family":"Haouari","sequence":"first","affiliation":[{"name":"INSERM UMR1193, Universit\u00e9 Paris\u2010Saclay  Ch\u00e2tenay\u2010Malabry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanne","family":"Dubail","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Reference Centre for 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