{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T01:08:42Z","timestamp":1780103322264,"version":"3.54.0"},"reference-count":70,"publisher":"American Society for Clinical Investigation","issue":"23","license":[{"start":{"date-parts":[[2018,12,6]],"date-time":"2018-12-06T00:00:00Z","timestamp":1544054400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"crossref","award":["CRC1140"],"award-info":[{"award-number":["CRC1140"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"crossref","award":["FP,SYBIL"],"award-info":[{"award-number":["FP,SYBIL"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,6]]},"abstract":"<jats:p>\n                    Biallelic loss-of-function mutations in\n                    <jats:italic>TRIP11<\/jats:italic>\n                    , encoding the golgin GMAP-210, cause the lethal human chondrodysplasia achondrogenesis 1A (ACG1A). We now find that a homozygous splice-site mutation of the lamin B receptor (\n                    <jats:italic>LBR<\/jats:italic>\n                    ) gene results in the same phenotype. Intrigued by the genetic heterogeneity, we compared GMAP-210\u2013 and LBR-deficient primary cells to unravel how particular mutations in\n                    <jats:italic>LBR<\/jats:italic>\n                    cause a phenocopy of ACG1A. We could exclude a regulatory interaction between LBR and GMAP-210 in patients\u2019 cells. However, we discovered a common disruption of Golgi apparatus architecture that was accompanied by decreased secretory trafficking in both cases. Deficiency of Golgi-dependent glycan processing indicated a similar downstream effect of the disease-causing mutations upon Golgi function. Unexpectedly, our results thus point to a common pathogenic mechanism in GMAP-210\u2013 and LBR-related diseases attributable to defective secretory trafficking at the Golgi apparatus.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.121150","type":"journal-article","created":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T11:01:32Z","timestamp":1544007692000},"source":"Crossref","is-referenced-by-count":11,"title":["A common pathomechanism in GMAP-210\u2013 and LBR-related diseases"],"prefix":"10.1172","volume":"3","author":[{"given":"Anika","family":"Wehrle","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Medical Centre-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 M.","family":"Witkos","sequence":"additional","affiliation":[{"name":"Faculty of Biology, 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