{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T09:37:38Z","timestamp":1785404258442,"version":"3.56.0"},"posted":{"date-parts":[[2026,5,5]]},"group-title":"Cell Biology","reference-count":21,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T00:00:00Z","timestamp":1777939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"award":["GM127690"],"award-info":[{"award-number":["GM127690"]}],"id":[{"id":"https:\/\/ror.org\/04q48ey07","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                    <jats:italic>KATNIP<\/jats:italic>\n                    (Katanin-interacting protein), also known as\n                    <jats:italic>KIAA0556<\/jats:italic>\n                    , is one of the human genes with pathogenic variants linked to Joubert syndrome, an archetypal neurodevelopmental ciliopathy. KATNIP is a scaffolding protein with a critical role in ciliogenesis. In this study, we characterized the ciliopathy phenotypes due to\n                    <jats:italic>KATNIP<\/jats:italic>\n                    gene deletion.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    We produced a\n                    <jats:italic>Katnip<\/jats:italic>\n                    null mouse model using CRISPR-Cas12a (Cpf1). The null heterozygotes appeared normal while the homozygotes died around postnatal day 9, showing severe hydrocephalus and deficiency in neuroprogenitor cell proliferation. Katnip-deficient cells in the brain have a higher rate of cilia formation and longer cilia than wild type cells.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>KATNIP loss of function gives rise to hydrocephalus found in Joubert syndrome. The results indicate that KATNIP restricts ciliogenesis and cilia extension and supports proliferation of neuroprogenitor cells in the brain.<\/jats:p>\n                <\/jats:sec>","DOI":"10.64898\/2026.05.01.722314","type":"posted-content","created":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T14:30:15Z","timestamp":1777991415000},"source":"Crossref","is-referenced-by-count":0,"title":["Hydrocephalus caused by\n                  <i>Katnip<\/i>\n                  deletion is linked to increased ciliogenesis and reduced proliferation of neuroprogenitor cells"],"prefix":"10.64898","author":[{"given":"Ana","family":"Limerick","sequence":"first","affiliation":[{"name":"Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheuk Ying","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob S.","family":"Turner","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Brautigan","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Immunology, and Cancer Biology, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhao","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Immunology, and Cancer Biology, University of Virginia School of Medicine, Charlottesville, Virginia"},{"name":"Genetically Engineered Murine Model Core, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1238-6695","authenticated-orcid":false,"given":"Zheng","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, University of Virginia School of Medicine, Charlottesville, Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"54368","reference":[{"key":"2026050809000742000_2026.05.01.722314v1.1","doi-asserted-by":"publisher","DOI":"10.1891\/NN-2024-0052"},{"key":"2026050809000742000_2026.05.01.722314v1.2","unstructured":"Glass IA , Dempsey JC , Parisi M , Doherty D. Joubert Syndrome. In: Adam MP , Bick S , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , eds. GeneReviews((R)). Seattle (WA): 1993."},{"key":"2026050809000742000_2026.05.01.722314v1.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)00801-6"},{"key":"2026050809000742000_2026.05.01.722314v1.4","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-023-00587-9"},{"key":"2026050809000742000_2026.05.01.722314v1.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(08)94007-3"},{"key":"2026050809000742000_2026.05.01.722314v1.6","doi-asserted-by":"publisher","DOI":"10.1242\/dev.151407"},{"key":"2026050809000742000_2026.05.01.722314v1.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2021.07.009"},{"key":"2026050809000742000_2026.05.01.722314v1.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2022.107560"},{"key":"2026050809000742000_2026.05.01.722314v1.9","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1689-z"},{"key":"2026050809000742000_2026.05.01.722314v1.10","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-015-0858-z"},{"key":"2026050809000742000_2026.05.01.722314v1.11","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-019-00577-2"},{"key":"2026050809000742000_2026.05.01.722314v1.12","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-2019-0"},{"key":"2026050809000742000_2026.05.01.722314v1.13","doi-asserted-by":"publisher","DOI":"10.1080\/10985549.2023.2246870"},{"key":"2026050809000742000_2026.05.01.722314v1.14","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.264056"},{"key":"2026050809000742000_2026.05.01.722314v1.15","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11491"},{"key":"2026050809000742000_2026.05.01.722314v1.16","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15845"},{"key":"2026050809000742000_2026.05.01.722314v1.17","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.15887"},{"key":"2026050809000742000_2026.05.01.722314v1.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31972"},{"key":"2026050809000742000_2026.05.01.722314v1.19","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0209-6"},{"key":"2026050809000742000_2026.05.01.722314v1.20","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2022.105913"},{"key":"2026050809000742000_2026.05.01.722314v1.21","doi-asserted-by":"publisher","DOI":"10.1038\/nm.2996"}],"container-title":[],"original-title":[],"link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.64898\/2026.05.01.722314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T16:00:15Z","timestamp":1778256015000},"score":1,"resource":{"primary":{"URL":"http:\/\/biorxiv.org\/lookup\/doi\/10.64898\/2026.05.01.722314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,5]]},"references-count":21,"URL":"https:\/\/doi.org\/10.64898\/2026.05.01.722314","relation":{},"subject":[],"published":{"date-parts":[[2026,5,5]]},"subtype":"preprint"}}