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Consequently, congenital disorders of glycosylation (CDG) in human are rare. We modelled a putative hypomorphic mutation described in an alpha-1,3\/1,6-mannosyltransferase (ALG2) index patient (ALG2-CDG) to address the developmental consequences in the teleost medaka (Oryzias latipes). We observed specific, multisystemic, late-onset phenotypes, closely resembling the patient's syndrome, prominently in the facial skeleton and in neuronal tissue. Molecularly, we detected reduced levels of N-glycans in medaka and in the patient's fibroblasts. This hypo-N-glycosylation prominently affected protein abundance. Proteins of the basic glycosylation and glycoprotein-processing machinery were over-represented in a compensatory response, highlighting the regulatory topology of the network. Proteins of the retinal phototransduction machinery, conversely, were massively under-represented in the alg2 model. These deficiencies relate to a specific failure to maintain rod photoreceptors, resulting in retinitis pigmentosa characterized by the progressive loss of these photoreceptors. Our work has explored only the tip of the iceberg of N-glycosylation-sensitive proteins, the function of which specifically impacts on cells, tissues and organs. Taking advantage of the well-described human mutation has allowed the complex interplay of N-glycosylated proteins and their contribution to development and disease to be addressed.<\/jats:p>","DOI":"10.1242\/dev.199385","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T08:35:05Z","timestamp":1623227705000},"source":"Crossref","is-referenced-by-count":10,"title":["A patient-based medaka\n                    <i>alg2<\/i>\n                    mutant as a model for hypo-\n                    <i>N<\/i>\n                    -glycosylation"],"prefix":"10.1242","volume":"148","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4604-6114","authenticated-orcid":false,"given":"Sevin\u00e7","family":"G\u00fcc\u00fcm","sequence":"first","affiliation":[{"name":"COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany"},{"name":"HBIGS, Heidelberg Biosciences International Graduate School, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9698-0773","authenticated-orcid":false,"given":"Roman","family":"Sakson","sequence":"additional","affiliation":[{"name":"HBIGS, Heidelberg Biosciences International Graduate School, Heidelberg University, 69120 Heidelberg, Germany"},{"name":"Core facility for Mass Spectrometry and Proteomics, Zentrum f\u00fcr Molekulare Biologie der Universit\u00e4t Heidelberg (ZMBH), DKFZ-ZMBH Alliance, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5259-255X","authenticated-orcid":false,"given":"Marcus","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valerian","family":"Grote","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7331-1449","authenticated-orcid":false,"given":"Clara","family":"Becker","sequence":"additional","affiliation":[{"name":"COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8101-5252","authenticated-orcid":false,"given":"Kaisa","family":"Pakari","sequence":"additional","affiliation":[{"name":"COS, Centre for Organismal Studies Heidelberg, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3915-6665","authenticated-orcid":false,"given":"Lars","family":"Beedgen","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine, Department Pediatrics I, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6419-8747","authenticated-orcid":false,"given":"Christian","family":"Thiel","sequence":"additional","affiliation":[{"name":"Center for Child and Adolescent Medicine, Department Pediatrics I, Heidelberg University, 69120 Heidelberg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6618-2626","authenticated-orcid":false,"given":"Erdmann","family":"Rapp","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Dynamics of Complex Technical Systems, 39106 Magdeburg, Germany"},{"name":"glyXera GmbH, 39120 Magdeburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9152-2266","authenticated-orcid":false,"given":"Thomas","family":"Ruppert","sequence":"additional","affiliation":[{"name":"Core facility for Mass Spectrometry and Proteomics, 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