{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:23:16Z","timestamp":1790662996013,"version":"4.1.0"},"reference-count":55,"publisher":"American Society for Clinical Investigation","issue":"3","license":[{"start":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T00:00:00Z","timestamp":1549497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"EU FP7","award":["SYBIL consortium to E.L."],"award-info":[{"award-number":["SYBIL consortium to E.L."]}]},{"name":"EU","award":["INTERREG to E.L."],"award-info":[{"award-number":["INTERREG to E.L."]}]},{"name":"DFG","award":["CRC1140,project B6"],"award-info":[{"award-number":["CRC1140,project B6"]}]},{"name":"BMBF","award":["MaTrOC"],"award-info":[{"award-number":["MaTrOC"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,2,7]]},"abstract":"<jats:p>\n                    Odontochondrodysplasia (ODCD) is an unresolved genetic disorder of skeletal and dental development. Here, we show that ODCD is caused by hypomorphic\n                    <jats:italic>TRIP11<\/jats:italic>\n                    mutations, and we identify ODCD as the nonlethal counterpart to achondrogenesis 1A (ACG1A), the known null phenotype in humans.\n                    <jats:italic>TRIP11<\/jats:italic>\n                    encodes Golgi-associated microtubule-binding protein 210 (GMAP-210), an essential tether protein of the Golgi apparatus that physically interacts with intraflagellar transport 20 (IFT20), a component of the ciliary intraflagellar transport complex B. This association and extraskeletal disease manifestations in ODCD point to a cilium-dependent pathogenesis. However, our functional studies in patient-derived primary cells clearly support a Golgi-based disease mechanism. In spite of reduced abundance, residual GMAP variants maintain partial Golgi integrity, normal global protein secretion, and subcellular distribution of IFT20 in ODCD. These functions are lost when GMAP-210 is completely abrogated in ACG1A. However, a similar defect in chondrocyte maturation is observed in both disorders, which produces a cellular achondrogenesis phenotype of different severity, ensuing from aberrant glycan processing and impaired extracellular matrix proteoglycan secretion by the Golgi apparatus.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.124701","type":"journal-article","created":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T11:01:05Z","timestamp":1549450865000},"source":"Crossref","is-referenced-by-count":38,"title":["Hypomorphic mutations of TRIP11 cause odontochondrodysplasia"],"prefix":"10.1172","volume":"4","author":[{"given":"Anika","family":"Wehrle","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6568-4429","authenticated-orcid":true,"given":"Tomasz 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Facult\u00e9 de Chirurgie Dentaire, Universit\u00e9 de Strasbourg, Strasbourg, France."},{"name":"Universit\u00e9 de Strasbourg, Facult\u00e9 de Chirurgie Dentaire, Institute of Advanced Studies, USIAS, Strasbourg, France."},{"name":"HUS, P\u00f4le de M\u00e9decine et Chirurgie Bucco-dentaires H\u00f4pital Civil, Centre de r\u00e9f\u00e9rence des maladies rares orales et dentaires, O-Rares, Fili\u00e8re Sant\u00e9 Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France."},{"name":"Universit\u00e9 de Strasbourg, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire (IGBMC), CERBM, INSERM U1258, CNRS- UMR7104, Illkirch, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology and Medical Imaging, Tokyo Metropolitan Kiyose Children\u2019s Hospital, Kiyose, 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