{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T06:44:11Z","timestamp":1790232251843,"version":"4.1.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale"},{"DOI":"10.13039\/501100005413","name":"Universit\u00e9 Paris Descartes","doi-asserted-by":"publisher","award":["ANR-11-IDEX-05-02"],"award-info":[{"award-number":["ANR-11-IDEX-05-02"]}],"id":[{"id":"10.13039\/501100005413","id-type":"DOI","asserted-by":"publisher"}]},{"name":"ANR-IHU"},{"name":"The Rare Diseases Foundation"},{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Cognitive Science and Technology Council of Iran","award":["1894"],"award-info":[{"award-number":["1894"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Human post-natal neurodevelopmental delay is often associated with cerebral alterations that can lead, by themselves or associated with peripheral deficits, to premature death. Here, we report the clinical features of 10 patients from six independent families with mutations in the autosomal YIF1B gene encoding a ubiquitous protein involved in anterograde traffic from the endoplasmic reticulum to the cell membrane, and in Golgi apparatus morphology. The patients displayed global developmental delay, motor delay, visual deficits with brain MRI evidence of ventricle enlargement, myelination alterations and cerebellar atrophy. A similar profile was observed in the Yif1b knockout (KO) mouse model developed to identify the cellular alterations involved in the clinical defects. In the CNS, mice lacking Yif1b displayed neuronal reduction, altered myelination of the motor cortex, cerebellar atrophy, enlargement of the ventricles, and subcellular alterations of endoplasmic reticulum and Golgi apparatus compartments. Remarkably, although YIF1B was not detected in primary cilia, biallelic YIF1B mutations caused primary cilia abnormalities in skin fibroblasts from both patients and Yif1b-KO mice, and in ciliary architectural components in the Yif1b-KO brain. Consequently, our findings identify YIF1B as an essential gene in early post-natal development in human, and provide a new genetic target that should be tested in patients developing a neurodevelopmental delay during the first year of life. Thus, our work is the first description of a functional deficit linking Golgipathies and ciliopathies, diseases so far associated exclusively to mutations in genes coding for proteins expressed within the primary cilium or related ultrastructures. We therefore propose that these pathologies should be considered as belonging to a larger class of neurodevelopmental diseases depending on proteins involved in the trafficking of proteins towards specific cell membrane compartments.<\/jats:p>","DOI":"10.1093\/brain\/awaa235","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T15:28:04Z","timestamp":1593790084000},"page":"2911-2928","source":"Crossref","is-referenced-by-count":21,"title":["YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations"],"prefix":"10.1093","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9894-0444","authenticated-orcid":false,"given":"Jorge","family":"Diaz","sequence":"first","affiliation":[{"name":"INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9 \u2013 Paris 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"G\u00e9rard","sequence":"additional","affiliation":[{"name":"INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cit\u00e9 University, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel-Boris","family":"Emerit","sequence":"additional","affiliation":[{"name":"INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9 \u2013 Paris 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Areias","sequence":"additional","affiliation":[{"name":"INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9 \u2013 Paris 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Geny","sequence":"additional","affiliation":[{"name":"INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9 \u2013 Paris 5, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"D\u00e9gardin","sequence":"additional","affiliation":[{"name":"INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Universit\u00e9 Pierre et Marie Curie, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Simonutti","sequence":"additional","affiliation":[{"name":"INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Universit\u00e9 Pierre et Marie Curie, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Justine","family":"Guerquin","sequence":"additional","affiliation":[{"name":"CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, 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