{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:16:05Z","timestamp":1789654565760,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,5,31]],"date-time":"2017-05-31T00:00:00Z","timestamp":1496188800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Mass Spectrom."],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:p>Congenital disorders of glycosylation (CDG) are due to defective glycosylation of glycoconjugates. Conserved oligomeric Golgi (COG)\u2010CDG are genetic diseases due to defects of the COG complex subunits 1\u20138 causing <jats:italic>N<\/jats:italic>\u2010glycan and <jats:italic>O<\/jats:italic>\u2010glycan processing abnormalities. In COG\u2010CDG, isoelectric focusing separation of undersialylated glycoforms of serum transferrin and apolipoprotein C\u2010III (apoC\u2010III) allows to detect <jats:italic>N<\/jats:italic>\u2010glycosylation and <jats:italic>O<\/jats:italic>\u2010glycosylation defects, respectively. COG5\u2010CDG (<jats:italic>COG5<\/jats:italic> subunit deficiency) is a multisystem disease with dysmorphic features, intellectual disability of variable degree, seizures, acquired microcephaly, sensory defects and autistic behavior. We applied matrix\u2010assisted laser desorption\/ionization\u2010MS for a high\u2010throughput screening of differential serum <jats:italic>O<\/jats:italic>\u2010glycoform and <jats:italic>N\u2010<\/jats:italic>glycoform in five patients with COG5\u2010CDG. When compared with age\u2010matched controls, COG5\u2010CDG showed a significant increase of apoC\u2010III<jats:sub>0a<\/jats:sub> (aglycosylated glycoform), whereas apoC\u2010III<jats:sub>1<\/jats:sub> (mono\u2010sialylated glycoform) decreased significantly. Serum <jats:italic>N<\/jats:italic>\u2010glycome of COG5\u2010CDG patients was characterized by the relative abundance of undersialylated and undergalactosylated biantennary and triantennary glycans as well as slight increase of high\u2010mannose structures and hybrid glycans. Using advanced and well\u2010established MS\u2010based approaches, the present findings reveal novel aspects on <jats:italic>O<\/jats:italic>\u2010glycan and <jats:italic>N<\/jats:italic>\u2010glycan profiling in COG5\u2010CDG patients, thus providing an increase of current knowledge on glycosylation defects caused by impairment of COG subunits, in support of clinical diagnosis. Copyright \u00a9 2017 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/jms.3936","type":"journal-article","created":{"date-parts":[[2017,4,26]],"date-time":"2017-04-26T01:54:57Z","timestamp":1493171697000},"page":"372-377","source":"Crossref","is-referenced-by-count":25,"title":["<scp>MALDI\u2010MS<\/scp> profiling of serum <i>O<\/i>\u2010glycosylation and <i>N<\/i>\u2010glycosylation in <scp>COG5\u2010CDG<\/scp>"],"prefix":"10.1002","volume":"52","author":[{"given":"A.","family":"Palmigiano","sequence":"first","affiliation":[{"name":"CNR \u2013 Institute for Polymers, Composites and Biomaterials  via P. Gaifami 18 \u2010 95126 Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. O.","family":"Bua","sequence":"additional","affiliation":[{"name":"CNR \u2013 Institute for Polymers, Composites and Biomaterials  via P. Gaifami 18 \u2010 95126 Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6302-2686","authenticated-orcid":false,"given":"R.","family":"Barone","sequence":"additional","affiliation":[{"name":"CNR \u2013 Institute for Polymers, Composites and Biomaterials  via P. Gaifami 18 \u2010 95126 Catania Italy"},{"name":"Child Neurology and Psychiatry, Department of Clinical and Experimental Medicine University of Catania  Via S. Sofia 78 \u2010 95123 Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rymen","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University of Leuven  Herestraat 49 B\u20103000 Leuven Belgium"},{"name":"Center for Metabolic Diseases University Hospital Gasthuisberg  Herestraat 49 3000 Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"R\u00e9gal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Metabolic Disorders UZ Brussel \u2013 University Hospital Brussels  Campus Jette Laarbeeklaan 101 1000 Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Deconinck","sequence":"additional","affiliation":[{"name":"Department of Neurology, H\u00f4pital Universitaire des Enfants Reine Fabiola Universit\u00e9 Libre de Bruxelles  Avenue Jean Joseph Crocq 15 1020 Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children's Research Hospital  piazza S. 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