{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:59:50Z","timestamp":1791896390648,"version":"4.3.4"},"reference-count":94,"publisher":"American Society for Clinical Investigation","issue":"1","license":[{"start":{"date-parts":[[2024,1,9]],"date-time":"2024-01-09T00:00:00Z","timestamp":1704758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["EY026521,EY014800"],"award-info":[{"award-number":["EY026521,EY014800"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001694","name":"International Retinal Research Foundation","doi-asserted-by":"crossref","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/100001694","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","award":["n\/a"],"award-info":[{"award-number":["n\/a"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Cancer Institute","award":["P30CA125123"],"award-info":[{"award-number":["P30CA125123"]}]},{"DOI":"10.13039\/100004917","name":"Cancer Prevention and Research Institute of Texas","doi-asserted-by":"crossref","award":["RP170005"],"award-info":[{"award-number":["RP170005"]}],"id":[{"id":"10.13039\/100004917","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,9]]},"abstract":"<jats:p>\n                    Syndromic ciliopathies and retinal degenerations are large heterogeneous groups of genetic diseases. Pathogenic variants in the\n                    <jats:italic>CFAP418<\/jats:italic>\n                    gene may cause both disorders, and its protein sequence is evolutionarily conserved. However, the disease mechanism underlying\n                    <jats:italic>CFAP418<\/jats:italic>\n                    mutations has not been explored. Here, we apply quantitative lipidomic, proteomic, and phosphoproteomic profiling and affinity purification coupled with mass spectrometry to address the molecular function of\n                    <jats:italic>CFAP418<\/jats:italic>\n                    in the retina. We show that CFAP418 protein binds to the lipid metabolism precursor phosphatidic acid (PA) and mitochondrion-specific lipid cardiolipin but does not form a tight and static complex with proteins. Loss of\n                    <jats:italic>Cfap418<\/jats:italic>\n                    in mice disturbs membrane lipid homeostasis and membrane-protein associations, which subsequently causes mitochondrial defects and membrane-remodeling abnormalities across multiple vesicular trafficking pathways in photoreceptors, especially the endosomal sorting complexes required for transport (ESCRT) pathway. Ablation of\n                    <jats:italic>Cfap418<\/jats:italic>\n                    also increases the activity of PA-binding protein kinase C\u03b1 in the retina. Overall, our results indicate that membrane lipid imbalance is a pathological mechanism underlying syndromic ciliopathies and retinal degenerations which is associated with other known causative genes of these diseases.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.162621","type":"journal-article","created":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T12:00:33Z","timestamp":1700136033000},"source":"Crossref","is-referenced-by-count":5,"title":["Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations"],"prefix":"10.1172","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3139-6066","authenticated-orcid":true,"given":"Anna M.","family":"Clark","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Neiswanger","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhuang","family":"Zou","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3217-2299","authenticated-orcid":true,"given":"J. Alan","family":"Maschek","sequence":"additional","affiliation":[{"name":"Department of Nutrition and Integrative Physiology, University of Utah, Salt Lake City, Utah, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8428-720X","authenticated-orcid":true,"given":"Thomas","family":"Burgoyne","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology, University College of London, London, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4799-0465","authenticated-orcid":true,"given":"Jun","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Moran Eye Center, and"},{"name":"Department of Otolaryngology, and"},{"name":"Department of Neurobiology, University of Utah, Salt Lake City, Utah, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2024,1,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2013.11.001"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/s12915-017-0432-0"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13563"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.138"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.636737"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2013.03.002"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-13567"},{"key":"B8","first-page":"236","article-title":"Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin","volume":"21","author":"Ravesh","year":"2015","journal-title":"Mol Vis"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.015"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1071408"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-15647"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw096"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1066830"},{"issue":"1","key":"B14","first-page":"68","article-title":"Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia","volume":"37","author":"Katagiri","year":"2016","journal-title":"Ophthalmic Genet"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2964-17.2018"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-21-08936.1998"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.005484"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.50580"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00136"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006469"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.079178"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.05.015"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1111\/tra.12654"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.3390\/biom10030468"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.3109\/10409238.2015.1091804"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-014-1138-1"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2018.12.004"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1042\/bj3540009"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2018.01.007"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1038\/nature19754"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1011"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1510111112"},{"key":"B33","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007057"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.578528"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-018-0103-9"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1016\/j.tips.2016.11.008"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2021.662859"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1017\/S0952523808080164"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.1038\/nature17041"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1042\/bj3010443"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(88)90025-0"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.190291097"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-006-6363-5"},{"key":"B44","unstructured":"Estrada-Cuzcano A, et al. Molecular genetic basis of non-syndromic retinal dystrophies. https:\/\/repository.ubn.ru.nl\/bitstream\/2066\/105786\/1\/105786.pdf Accessed November 16, 2023"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-11439"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2017.1301965"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2014.4266"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.005"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2017.00090"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202002179"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1016\/0163-7827(83)90004-8"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.18388\/abp.2018_2592"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M410091200"},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M700378-JLR200"},{"key":"B55","doi-asserted-by":"publisher","DOI":"10.1016\/j.plefa.2020.102175"},{"key":"B56","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M084012"},{"key":"B57","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2018.07.012"},{"key":"B58","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118319"},{"key":"B59","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2289-6"},{"key":"B60","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2280-2"},{"key":"B61","doi-asserted-by":"publisher","DOI":"10.3390\/biom10111497"},{"key":"B62","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.209122"},{"key":"B63","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20101267"},{"key":"B64","doi-asserted-by":"publisher","DOI":"10.5483\/BMBRep.2008.41.6.415"},{"key":"B65","doi-asserted-by":"publisher","DOI":"10.1016\/j.plipres.2009.06.001"},{"key":"B66","doi-asserted-by":"publisher","DOI":"10.3390\/cells9061417"},{"key":"B67","doi-asserted-by":"publisher","DOI":"10.1080\/21541248.2017.1336191"},{"key":"B68","doi-asserted-by":"publisher","DOI":"10.3410\/B4-4"},{"key":"B69","doi-asserted-by":"publisher","DOI":"10.3390\/biom8020020"},{"key":"B70","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2017.08.011"},{"key":"B71","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2015.07.034"},{"key":"B72","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.abh2217"},{"key":"B73","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx399"},{"key":"B74","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2018.03.004"},{"key":"B75","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1761-18.2018"},{"key":"B76","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA117.000141"},{"key":"B77","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2010751117"},{"issue":"18","key":"B78","first-page":"3376","article-title":"The late endosomal pathway regulates the ciliary targeting of tetraspanin protein peripherin 2","volume":"39","author":"Otsu","year":"2019","journal-title":"J Neurosci"},{"key":"B79","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamem.2006.09.001"},{"key":"B80","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M117.790568"},{"key":"B81","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.039982"},{"key":"B82","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202101063"},{"key":"B83","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.06.030"},{"key":"B84","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M116.061440"},{"key":"B85","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jproteome.9b00860"},{"key":"B86","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2017.08.006"},{"key":"B87","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab382"},{"key":"B88","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-28982-6"},{"key":"B89","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr503"},{"key":"B90","doi-asserted-by":"publisher","DOI":"10.1002\/cpbi.86"},{"key":"B91","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1042"},{"key":"B92","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2014.11.020"},{"key":"B93","doi-asserted-by":"publisher","DOI":"10.1101\/gr.1239303"},{"key":"B94","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1131"}],"container-title":["JCI Insight"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/insight.jci.org\/articles\/view\/162621\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T21:42:54Z","timestamp":1779140574000},"score":1,"resource":{"primary":{"URL":"https:\/\/insight.jci.org\/articles\/view\/162621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,9]]},"references-count":94,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,9]]},"published-print":{"date-parts":[[2024,1,9]]}},"alternative-id":["10.1172\/jci.insight.162621"],"URL":"https:\/\/doi.org\/10.1172\/jci.insight.162621","relation":{},"ISSN":["2379-3708"],"issn-type":[{"value":"2379-3708","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,9]]},"article-number":"e162621"}}