{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T15:42:33Z","timestamp":1779291753005,"version":"3.51.4"},"reference-count":49,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008065","name":"Georgia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","award":["HL161094"],"award-info":[{"award-number":["HL161094"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1016\/j.jbc.2025.108411","type":"journal-article","created":{"date-parts":[[2025,3,18]],"date-time":"2025-03-18T00:08:18Z","timestamp":1742256498000},"page":"108411","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation"],"prefix":"10.1016","volume":"301","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1009-6301","authenticated-orcid":false,"given":"Nicholas R.","family":"Kegley","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel B.","family":"Williamson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina C.","family":"McArdle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert S.","family":"Haltiwanger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbc.2025.108411_bib1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.matbio.2019.06.006","article-title":"The role of fibrillin and microfibril binding proteins in elastin and elastic fibre assembly","volume":"84","author":"Godwin","year":"2019","journal-title":"Matrix. Biol."},{"key":"10.1016\/j.jbc.2025.108411_bib2","first-page":"95","article-title":"The role of LTBPs in TGF beta signaling","volume":"251","author":"Rifkin","year":"2021","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.jbc.2025.108411_bib3","doi-asserted-by":"crossref","first-page":"487","DOI":"10.3390\/biom10030487","article-title":"TGF-Beta signaling","volume":"10","author":"Tzavlaki","year":"2020","journal-title":"Biomolecules"},{"key":"10.1016\/j.jbc.2025.108411_bib4","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/ppul.20174","article-title":"Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia","volume":"39","author":"Shinawi","year":"2005","journal-title":"Pediatr. Pulmonol."},{"key":"10.1016\/j.jbc.2025.108411_bib5","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.037283","article-title":"Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome","volume":"12","author":"Jones","year":"2019","journal-title":"Dis Model Mech"},{"key":"10.1016\/j.jbc.2025.108411_bib6","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/j.jvs.2012.10.007","article-title":"The fibrillin-1 hypomorphic mgR\/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta","volume":"57","author":"Schwill","year":"2013","journal-title":"J. Vasc. Surg."},{"key":"10.1016\/j.jbc.2025.108411_bib7","doi-asserted-by":"crossref","first-page":"5469","DOI":"10.3390\/ijms25105469","article-title":"High-throughput genomics identify novel FBN1\/2 variants in severe neonatal marfan syndrome and congenital heart defects","volume":"25","author":"Zodanu","year":"2024","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.jbc.2025.108411_bib8","article-title":"POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, and LTBP1 and promote secretion of FBN1","volume":"3","author":"Williamson","year":"2021","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib9","doi-asserted-by":"crossref","first-page":"16600","DOI":"10.1073\/pnas.1109696108","article-title":"Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase","volume":"108","author":"Takeuchi","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.108411_bib10","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.cell.2007.12.016","article-title":"Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling","volume":"132","author":"Acar","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.jbc.2025.108411_bib11","doi-asserted-by":"crossref","first-page":"5234","DOI":"10.1073\/pnas.0831126100","article-title":"Protein O-fucosyltransferase I is an essential component of Notch signaling pathways","volume":"100","author":"Shi","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.108411_bib12","doi-asserted-by":"crossref","first-page":"16348","DOI":"10.1074\/jbc.M116.732537","article-title":"Mapping sites of O-glycosylation and Fringe elongation on Drosophila notch","volume":"291","author":"Harvey","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib13","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/978-3-319-89512-3_4","article-title":"Regulation of notch function by O-glycosylation","volume":"1066","author":"Harvey","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.jbc.2025.108411_bib14","doi-asserted-by":"crossref","first-page":"309","DOI":"10.3390\/biom11020309","article-title":"Current views on the roles of O-glycosylation in controlling notch-ligand interactions","volume":"11","author":"Saiki","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.jbc.2025.108411_bib15","doi-asserted-by":"crossref","first-page":"E8395","DOI":"10.1073\/pnas.1804005115","article-title":"Two novel protein O-glucosyltransferases that modify sites distinct from POGLUT1 and affect Notch trafficking and signaling","volume":"115","author":"Takeuchi","year":"2018","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.108411_bib16","doi-asserted-by":"crossref","first-page":"31623","DOI":"10.1074\/jbc.M111.268243","article-title":"O-glucose trisaccharide is present at high but variable stoichiometry at multiple sites on mouse Notch1","volume":"286","author":"Rana","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib17","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1074\/jbc.C109.065409","article-title":"Identification of glycosyltransferase 8 family members as xylosyltransferases acting on O-glucosylated notch epidermal growth factor repeats","volume":"285","author":"Sethi","year":"2010","journal-title":"J Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib18","doi-asserted-by":"crossref","first-page":"2739","DOI":"10.1074\/jbc.M111.302406","article-title":"Molecular cloning of a xylosyltransferase that transfers the second xylose to o-glucosylated epidermal growth factor repeats of notch","volume":"287","author":"Sethi","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib19","doi-asserted-by":"crossref","first-page":"33934","DOI":"10.1074\/jbc.M112.401315","article-title":"Site-specific O-glucosylation of the epidermal growth factor-like (EGF) repeats of notch: efficiency of glycosylation is affected by proper folding and amino acid sequence of individual EGF repeats","volume":"287","author":"Takeuchi","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib20","doi-asserted-by":"crossref","first-page":"14076","DOI":"10.1074\/jbc.M412832200","article-title":"Ca2+-dependent interface formation in fibrillin-1","volume":"280","author":"Jensen","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib21","doi-asserted-by":"crossref","first-page":"6751","DOI":"10.1074\/jbc.270.12.6751","article-title":"The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1","volume":"270","author":"Handford","year":"1995","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib22","doi-asserted-by":"crossref","first-page":"12199","DOI":"10.1074\/jbc.M208266200","article-title":"Solution structure and dynamics of a calcium binding epidermal growth factor-like domain pair from the neonatal region of human fibrillin-1","volume":"278","author":"Smallridge","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib23","doi-asserted-by":"crossref","first-page":"15964","DOI":"10.1074\/jbc.M117.800102","article-title":"O-Glycosylation modulates the stability of epidermal growth factor-like repeats and thereby regulates Notch trafficking","volume":"292","author":"Takeuchi","year":"2017","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib24","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2024.107445","article-title":"Poglut2\/3 double knockout in mice results in neonatal lethality with reduced levels of fibrillin in lung tissues","volume":"300","author":"Neupane","year":"2024","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib25","doi-asserted-by":"crossref","first-page":"8016","DOI":"10.1074\/jbc.M511599200","article-title":"Fibrillins 1 and 2 perform partially overlapping functions during aortic development","volume":"281","author":"Carta","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib26","doi-asserted-by":"crossref","first-page":"3819","DOI":"10.1073\/pnas.96.7.3819","article-title":"Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1","volume":"96","author":"Pereira","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U S A."},{"key":"10.1016\/j.jbc.2025.108411_bib27","doi-asserted-by":"crossref","first-page":"50795","DOI":"10.1074\/jbc.M210611200","article-title":"Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils","volume":"277","author":"Lin","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib28","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.3390\/cells9051220","article-title":"Xylosyl extension of O-glucose glycans on the extracellular domain of NOTCH1 and NOTCH2 regulates notch cell surface trafficking","volume":"9","author":"Urata","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.jbc.2025.108411_bib29","first-page":"1022a","article-title":"(P124) 3\u2019-Sialyllactose on Notch: notch1 functions as a scaffold of O-linked","volume":"32","author":"Tsukamoto","year":"2022","journal-title":"3 \u2019-sialyllactosylated glycans Glycobiology"},{"key":"10.1016\/j.jbc.2025.108411_bib30","article-title":"Differential O-Glc elongation on the specific EGF repeat within a ligand binding domain regulates NOTCH1 signaling","volume":"30","author":"Tsukamoto","year":"2025","journal-title":"bioRxiv"},{"key":"10.1016\/j.jbc.2025.108411_bib31","article-title":"Cell-based glycan arrays-A practical guide to dissect the human glycome","volume":"1","author":"Bull","year":"2020","journal-title":"STAR Potoc"},{"key":"10.1016\/j.jbc.2025.108411_bib32","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.molcel.2019.05.017","article-title":"An atlas of human glycosylation pathways enables display of the human glycome by gene engineered cells","volume":"75","author":"Narimatsu","year":"2019","journal-title":"Mol. Cell."},{"key":"10.1016\/j.jbc.2025.108411_bib33","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1126\/science.1261093","article-title":"Structural basis for Notch1 engagement of delta-like 4","volume":"347","author":"Luca","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.jbc.2025.108411_bib34","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","author":"Collod-Beroud","year":"2003","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jbc.2025.108411_bib35","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.jbc.2025.108411_bib36","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1542\/peds.2008-0703","article-title":"Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations","volume":"123","author":"Faivre","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.jbc.2025.108411_bib37","doi-asserted-by":"crossref","first-page":"32810","DOI":"10.1074\/jbc.M111.221804","article-title":"Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function","volume":"286","author":"Kirschner","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.jbc.2025.108411_bib38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0248532","article-title":"Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis","volume":"16","author":"Jensen","year":"2021","journal-title":"PLoS One"},{"key":"10.1016\/j.jbc.2025.108411_bib39","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/351164a0","article-title":"Key residues involved in calcium-binding motifs in EGF-like domains","volume":"351","author":"Handford","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.jbc.2025.108411_bib40","series-title":"Glycosyltransferases and Glycan-Processing Enzymes in Essentials of Glycobiology [Internet] Chapter 6","author":"Rini","year":"2022"},{"key":"10.1016\/j.jbc.2025.108411_bib41","doi-asserted-by":"crossref","first-page":"D831","DOI":"10.1093\/nar\/gkaa793","article-title":"The Bgee suite: integrated curated expression atlas and comparative transcriptomics in animals","volume":"49","author":"Bastian","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.jbc.2025.108411_bib42","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/j.semcdb.2018.07.016","article-title":"Fibrillin microfibrils and elastic fibre proteins: functional interactions and extracellular regulation of growth factors","volume":"89","author":"Thomson","year":"2019","journal-title":"Semin. Cell. Dev. Biol"},{"key":"10.1016\/j.jbc.2025.108411_bib43","doi-asserted-by":"crossref","first-page":"7290","DOI":"10.1073\/pnas.1319683111","article-title":"Fringe-mediated extension of O-linked fucose in the ligand-binding region of Notch1 increases binding to mammalian Notch ligands","volume":"111","author":"Taylor","year":"2014","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.jbc.2025.108411_bib44","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1006\/jmbi.1996.0237","article-title":"Fibrillin-1: organization in microfibrils and structural properties","volume":"258","author":"Reinhardt","year":"1996","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.jbc.2025.108411_bib45","doi-asserted-by":"crossref","DOI":"10.1590\/1678-4324-2021200817","article-title":"Serum-free suspension adaptation of HEK-293T cells: basis for large-scale biopharmaceutical production","volume":"64","author":"Lomba","year":"2021","journal-title":"Braz. Arch. Biol. Technol"},{"key":"10.1016\/j.jbc.2025.108411_bib46","doi-asserted-by":"crossref","first-page":"5296","DOI":"10.1021\/pr200780j","article-title":"Two-dimensional target decoy strategy for shotgun proteomics","volume":"10","author":"Bern","year":"2011","journal-title":"J. Proteome Res."},{"key":"10.1016\/j.jbc.2025.108411_bib47","doi-asserted-by":"crossref","first-page":"2447","DOI":"10.1001\/archinte.161.20.2447","article-title":"Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome","volume":"161","author":"Loeys","year":"2001","journal-title":"Arch Intern Med"},{"key":"10.1016\/j.jbc.2025.108411_bib48","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.9505","article-title":"The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations","volume":"28","author":"Comeglio","year":"2007","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jbc.2025.108411_bib49","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ab.2009.03.032","article-title":"Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis","volume":"389","author":"Hung","year":"2009","journal-title":"Anal Biochem"}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825002601?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925825002601?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,28]],"date-time":"2025-05-28T21:32:40Z","timestamp":1748467960000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925825002601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["S0021925825002601"],"URL":"https:\/\/doi.org\/10.1016\/j.jbc.2025.108411","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylation","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2025.108411","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology\u00e9","name":"copyright","label":"Copyright"}],"article-number":"108411"}}