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The 4 SEC24 proteins (A\u2013D) are essential COPII components involved in cargo selection and packaging. A human disorder corresponding to alterations of SEC24 function is currently known only for\n                    <jats:italic>SEC24D<\/jats:italic>\n                    . Here, we reported that biallelic loss of SEC24C leads to a syndrome characterized by primary microcephaly, brain anomalies, epilepsy, hearing loss, liver dysfunction, anemia, and cataracts in an extended consanguineous family with 4 affected individuals. We showed that knockout of\n                    <jats:italic>sec24C<\/jats:italic>\n                    in zebrafish recapitulated important aspects of the human phenotype. SEC24C-deficient fibroblasts displayed alterations in the expression of several COPII components as well as impaired anterograde trafficking to the Golgi, indicating a severe impact on COPII function. Transcriptome analysis revealed that SEC24C deficiency also affected the proteasome and autophagy pathways. Moreover, a shift in the N-glycosylation pattern and deregulation of the N-glycosylation pathway suggested a possible secondary alteration of protein glycosylation, linking the described disorder with the congenital disorders of glycosylation.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.173484","type":"journal-article","created":{"date-parts":[[2025,3,25]],"date-time":"2025-03-25T12:15:47Z","timestamp":1742904947000},"source":"Crossref","is-referenced-by-count":7,"title":["SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis"],"prefix":"10.1172","volume":"10","author":[{"given":"Nina","family":"B\u00f6gershausen","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, University Medical Center G\u00f6ttingen, G\u00f6ttingen, 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