{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T15:35:15Z","timestamp":1792683315008,"version":"4.5.0"},"reference-count":28,"publisher":"National Academy of Sciences","issue":"20","license":[{"start":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T00:00:00Z","timestamp":1572307200000},"content-version":"vor","delay-in-days":183,"URL":"https:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["64578"],"award-info":[{"award-number":["64578"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["V417818N"],"award-info":[{"award-number":["V417818N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["1207416N"],"award-info":[{"award-number":["1207416N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"HHS | NIH | National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["GM43768"],"award-info":[{"award-number":["GM43768"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2019,5,14]]},"abstract":"<jats:p>\n                    Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. We identified two patients with defective serum transferrin glycosylation and mutations in the\n                    <jats:italic>MAGT1<\/jats:italic>\n                    gene. These patients present with a phenotype that is mainly characterized by intellectual and developmental disability. MAGT1 has been described to be a subunit of the oligosaccharyltransferase (OST) complex and more specifically of the STT3B complex. However, it was also claimed that MAGT1 is a magnesium (Mg\n                    <jats:sup>2+<\/jats:sup>\n                    ) transporter. So far, patients with mutations in\n                    <jats:italic>MAGT1<\/jats:italic>\n                    were linked to a primary immunodeficiency, characterized by chronic EBV infections attributed to a Mg\n                    <jats:sup>2+<\/jats:sup>\n                    homeostasis defect (XMEN). We compared the clinical and cellular phenotype of our two patients to that of an XMEN patient that we recently identified. All three patients have an\n                    <jats:italic>N<\/jats:italic>\n                    -glycosylation defect, as was shown by the study of different substrates, such as GLUT1 and SHBG, demonstrating that the posttranslational glycosylation carried out by the STT3B complex is dysfunctional in all three patients. Moreover, MAGT1 deficiency is associated with an enhanced expression of TUSC3, the homolog protein of MAGT1, pointing toward a compensatory mechanism. Hence, we delineate MAGT1-CDG as a disorder associated with two different clinical phenotypes caused by defects in glycosylation.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1817815116","type":"journal-article","created":{"date-parts":[[2019,4,29]],"date-time":"2019-04-29T23:53:27Z","timestamp":1556582007000},"page":"9865-9870","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":97,"title":["Mutations in\n                    <i>MAGT1<\/i>\n                    lead to a glycosylation disorder with a variable phenotype"],"prefix":"10.1073","volume":"116","author":[{"given":"Eline","family":"Blommaert","sequence":"first","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romain","family":"P\u00e9anne","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia A.","family":"Cherepanova","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01655;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisy","family":"Rymen","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, University Children\u2019s Hospital, 8032 Z\u00fcrich, Switzerland;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik","family":"Staels","sequence":"additional","affiliation":[{"name":"KU Leuven Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaak","family":"Jaeken","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Center for Metabolic Diseases, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Race","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liesbeth","family":"Keldermans","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Souche","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anniek","family":"Corveleyn","sequence":"additional","affiliation":[{"name":"Laboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sparkes","sequence":"additional","affiliation":[{"name":"Alberta Children\u2019s Hospital, Calgary, AB T3B 6A8, Canada;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaustuv","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Disorders Service, Children\u2019s Hospital Westmead Clinical School, University of Sydney, NSW 2145 Westmead, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Devalck","sequence":"additional","affiliation":[{"name":"Department of Hemato-Oncology, H\u00f4pital Universitaire Des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles, 1020 Brussels, Belgium;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rik","family":"Schrijvers","sequence":"additional","affiliation":[{"name":"KU Leuven Department of Microbiology, Immunology and 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