{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T04:05:33Z","timestamp":1792037133071,"version":"4.4.0"},"reference-count":194,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31991193"],"award-info":[{"award-number":["31991193"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32000524"],"award-info":[{"award-number":["32000524"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32270807"],"award-info":[{"award-number":["32270807"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Shandong Provincial Natural Science Foundation","doi-asserted-by":"publisher","award":["ZR2020QC076"],"award-info":[{"award-number":["ZR2020QC076"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2023,7,6]]},"abstract":"<jats:p>The BBSome is an octameric protein complex that regulates ciliary transport and signaling. Mutations in BBSome subunits are closely associated with ciliary defects and lead to ciliopathies, notably Bardet-Biedl syndrome. Over the past few years, there has been significant progress in elucidating the molecular organization and functions of the BBSome complex. An improved understanding of BBSome-mediated biological events and molecular mechanisms is expected to help advance the development of diagnostic and therapeutic approaches for BBSome-related diseases. Here, we review the current literature on the structural assembly, transport regulation, and molecular functions of the BBSome, emphasizing its roles in cilium-related processes. We also provide perspectives on the pathological role of the BBSome in ciliopathies as well as how these can be exploited for therapeutic benefit.<\/jats:p>","DOI":"10.7554\/elife.87623","type":"journal-article","created":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T04:15:11Z","timestamp":1688616911000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.87623","source":"Crossref","is-referenced-by-count":90,"title":["Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond"],"prefix":"10.7554","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1384-8687","authenticated-orcid":true,"given":"Xiaoyu","family":"Tian","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01wy3h363","id-type":"ROR","asserted-by":"publisher"}],"name":"Center for Cell Structure and Function, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8595-8159","authenticated-orcid":true,"given":"Huijie","family":"Zhao","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01wy3h363","id-type":"ROR","asserted-by":"publisher"}],"name":"Center for Cell Structure and Function, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University","place":["Jinan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3131-7804","authenticated-orcid":true,"given":"Jun","family":"Zhou","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01wy3h363","id-type":"ROR","asserted-by":"publisher"}],"name":"Center for Cell Structure and Function, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University","place":["Jinan, China"]},{"id":[{"id":"https:\/\/ror.org\/01y1kjr75","id-type":"ROR","asserted-by":"publisher"}],"name":"State Key Laboratory of Medicinal Chemical Biology, Haihe Laboratory of Cell Ecosystem, College of Life Sciences, Nankai University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4374","published-online":{"date-parts":[[2023,7,19]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"3394","DOI":"10.1016\/j.visres.2007.09.016","article-title":"Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome","volume":"47","author":"Abd-El-Barr","year":"2007","journal-title":"Vision Research"},{"key":"bib2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.50580","article-title":"Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding","volume":"9","author":"Akella","year":"2020","journal-title":"eLife"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"3381","DOI":"10.1007\/s00018-014-1571-x","article-title":"BBS4 directly affects proliferation and differentiation of adipocytes","volume":"71","author":"Aksanov","year":"2014","journal-title":"Cellular and Molecular Life Sciences"},{"key":"bib4","doi-asserted-by":"publisher","first-page":"3307","DOI":"10.1093\/hmg\/ddu044","article-title":"IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome","volume":"23","author":"Aldahmesh","year":"2014","journal-title":"Human Molecular Genetics"},{"key":"bib5","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2017.00055","article-title":"Bardet-Biedl syndrome as a chaperonopathy: dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)","volume":"4","author":"\u00c1lvarez-Satta","year":"2017","journal-title":"Frontiers in Molecular Biosciences"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.ymgme.2019.03.006","article-title":"Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis","volume":"126","author":"Anosov","year":"2019","journal-title":"Molecular Genetics and Metabolism"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1038\/nature02030","article-title":"Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome","volume":"425","author":"Ansley","year":"2003","journal-title":"Nature"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/s41581-019-0116-9","article-title":"Cellular signalling by primary cilia in development, organ function and disease","volume":"15","author":"Anvarian","year":"2019","journal-title":"Nature Reviews. Nephrology"},{"key":"bib9","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1086\/368204","article-title":"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2","volume":"72","author":"Badano","year":"2003","journal-title":"American Journal of Human Genetics"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1093\/hmg\/ddg188","article-title":"Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus","volume":"12","author":"Badano","year":"2003","journal-title":"Human Molecular Genetics"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/nature04370","article-title":"Dissection of epistasis in oligogenic Bardet\u2013Biedl syndrome","volume":"439","author":"Badano","year":"2006","journal-title":"Nature"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"2482","DOI":"10.1093\/hmg\/ddt100","article-title":"Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis","volume":"22","author":"Barbelanne","year":"2013","journal-title":"Human Molecular Genetics"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"2185","DOI":"10.1093\/hmg\/ddu738","article-title":"Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery","volume":"24","author":"Barbelanne","year":"2015","journal-title":"Human Molecular Genetics"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1086\/375178","article-title":"Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-mendelian Bardet-Biedl syndrome","volume":"72","author":"Beales","year":"2003","journal-title":"The American Journal of Human Genetics"},{"key":"bib15","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/iyab209","article-title":"Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes","volume":"220","author":"Bentley-Ford","year":"2022","journal-title":"Genetics"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.1091\/mbc.e07-09-0942","article-title":"Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors","volume":"19","author":"Berbari","year":"2008","journal-title":"Molecular Biology of the Cell"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"4242","DOI":"10.1073\/pnas.0711027105","article-title":"Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia","volume":"105","author":"Berbari","year":"2008","journal-title":"PNAS"},{"key":"bib18","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1038\/emboj.2011.110","article-title":"Crystal structure of the intraflagellar transport complex 25\/27","volume":"30","author":"Bhogaraju","year":"2011","journal-title":"The EMBO Journal"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1093\/hmg\/ddu441","article-title":"Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome","volume":"24","author":"Bujakowska","year":"2015","journal-title":"Human Molecular Genetics"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"2153","DOI":"10.2147\/JMDH.S274739","article-title":"Monitoring and management of Bardet-Biedl syndrome: what the multi-disciplinary team can do","volume":"15","author":"Caba","year":"2022","journal-title":"Journal of Multidisciplinary Healthcare"},{"key":"bib21","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004083","article-title":"The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome","volume":"10","author":"Chamling","year":"2014","journal-title":"PLOS Genetics"},{"key":"bib22","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2021.101035","article-title":"Retinal ciliopathies through the lens of Bardet-Biedl syndrome: past, present and future","volume":"89","author":"Chandra","year":"2022","journal-title":"Progress in Retinal and Eye Research"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1086\/423903","article-title":"Comparative genomic analysis identifies an ADP-ribosylation factor\u2013like gene as the cause of Bardet-Biedl syndrome (BBS3)","volume":"75","author":"Chiang","year":"2004","journal-title":"The American Journal of Human Genetics"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"6287","DOI":"10.1073\/pnas.0600158103","article-title":"Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)","volume":"103","author":"Chiang","year":"2006","journal-title":"PNAS"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"1384","DOI":"10.1016\/j.str.2019.06.006","article-title":"The molecular architecture of native BBSome obtained by an integrated structural approach","volume":"27","author":"Chou","year":"2019","journal-title":"Structure"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"1450","DOI":"10.1242\/jcs.196832","article-title":"The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking","volume":"130","author":"Conkar","year":"2017","journal-title":"Journal of Cell Science"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1002\/humu.21337","article-title":"CEP290, a gene with many faces: mutation overview and presentation of CEP290base","volume":"31","author":"Coppieters","year":"2010","journal-title":"Human Mutation"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1038\/nature04117","article-title":"Vertebrate smoothened functions at the primary cilium","volume":"437","author":"Corbit","year":"2005","journal-title":"Nature"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1083\/jcb.201006105","article-title":"CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content","volume":"190","author":"Craige","year":"2010","journal-title":"The Journal of Cell Biology"},{"key":"bib30","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202201050","article-title":"Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia","volume":"221","author":"Dai","year":"2022","journal-title":"The Journal of Cell Biology"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"E4400","DOI":"10.1073\/pnas.1510111112","article-title":"Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome","volume":"112","author":"Datta","year":"2015","journal-title":"PNAS"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"19422","DOI":"10.1073\/pnas.0708571104","article-title":"A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity","volume":"104","author":"Davis","year":"2007","journal-title":"PNAS"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"E5135","DOI":"10.1073\/pnas.1604258113","article-title":"Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes","volume":"113","author":"Dean","year":"2016","journal-title":"PNAS"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"10620","DOI":"10.1073\/pnas.95.18.10620","article-title":"Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA","volume":"95","author":"Deretic","year":"1998","journal-title":"PNAS"},{"key":"bib35","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201912104","article-title":"Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling","volume":"219","author":"Desai","year":"2020","journal-title":"The Journal of Cell Biology"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1093\/hmg\/ddx399","article-title":"Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons","volume":"27","author":"Dilan","year":"2018","journal-title":"Human Molecular Genetics"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"2951","DOI":"10.1007\/s00018-010-0603-4","article-title":"Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins","volume":"68","author":"Domire","year":"2011","journal-title":"Cellular and Molecular Life Sciences"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1242\/bio.026278","article-title":"Chlamydomonas IFT25 is dispensable for flagellar assembly but required to export the BBSome from flagella","volume":"6","author":"Dong","year":"2017","journal-title":"Biology Open"},{"key":"bib39","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2020105499","article-title":"Rabl2 GTP hydrolysis licenses BBSome-mediated export to fine-tune ciliary signaling","volume":"40","author":"Duan","year":"2021","journal-title":"The EMBO Journal"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.devcel.2014.09.011","article-title":"IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment","volume":"31","author":"Eguether","year":"2014","journal-title":"Developmental Cell"},{"key":"bib41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2021.103515","article-title":"Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts","volume":"70","author":"Eintracht","year":"2021","journal-title":"EBioMedicine"},{"key":"bib42","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2023.106410","article-title":"Neofunctionalization of ciliary BBS proteins to nuclear roles is likely a frequent innovation across eukaryotes","volume":"26","author":"Ewerling","year":"2023","journal-title":"IScience"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/ng1414","article-title":"Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome","volume":"36","author":"Fan","year":"2004","journal-title":"Nature Genetics"},{"key":"bib44","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1242\/jcs.089375","article-title":"Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation","volume":"125","author":"Gascue","year":"2012","journal-title":"Journal of Cell Science"},{"key":"bib45","doi-asserted-by":"publisher","first-page":"1383","DOI":"10.1242\/jcs.02818","article-title":"Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif","volume":"119","author":"Geng","year":"2006","journal-title":"Journal of Cell Science"},{"key":"bib46","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1038\/ng.2007.12","article-title":"Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response","volume":"39","author":"Gerdes","year":"2007","journal-title":"Nature Genetics"},{"key":"bib47","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.906530","article-title":"The TRiCky business of protein folding in health and disease","volume":"10","author":"Ghozlan","year":"2022","journal-title":"Frontiers in Cell and Developmental Biology"},{"key":"bib48","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0173399","article-title":"The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling","volume":"12","author":"Goetz","year":"2017","journal-title":"PLOS ONE"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"243","DOI":"10.14348\/molcells.2017.0054","article-title":"The ciliary transition zone: finding the pieces and assembling the gate","volume":"40","author":"Gon\u00e7alves","year":"2017","journal-title":"Molecules and Cells"},{"key":"bib50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005890","article-title":"The BBSome controls energy homeostasis by mediating the transport of the leptin receptor to the plasma membrane","volume":"12","author":"Guo","year":"2016","journal-title":"PLOS Genetics"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"1591","DOI":"10.2337\/db18-1088","article-title":"The BBSome in POMC and AgRP neurons is necessary for body weight regulation and sorting of metabolic receptors","volume":"68","author":"Guo","year":"2019","journal-title":"Diabetes"},{"key":"bib52","doi-asserted-by":"publisher","first-page":"C457","DOI":"10.1152\/ajpcell.00498.2018","article-title":"The Bardet-Biedl syndrome protein complex regulates cell migration and tissue repair through a Cullin-3\/RhoA pathway","volume":"317","author":"Guo","year":"2019","journal-title":"American Journal of Physiology. Cell Physiology"},{"key":"bib53","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2022.101654","article-title":"The BBSome regulates mitochondria dynamics and function","volume":"67","author":"Guo","year":"2023","journal-title":"Molecular Metabolism"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1002\/ajmg.c.31970","article-title":"Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins","volume":"190","author":"Gupta","year":"2022","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"key":"bib55","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.79299","article-title":"Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis","volume":"12","author":"Hall","year":"2023","journal-title":"eLife"},{"key":"bib56","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3000414","article-title":"Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons","volume":"17","author":"Haq","year":"2019","journal-title":"PLOS Biology"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"2283","DOI":"10.1093\/hmg\/ddw096","article-title":"Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)","volume":"25","author":"Heon","year":"2016","journal-title":"Human Molecular Genetics"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"3858","DOI":"10.1093\/hmg\/ddt241","article-title":"Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization","volume":"22","author":"Hernandez-Hernandez","year":"2013","journal-title":"Human Molecular Genetics"},{"key":"bib59","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2019.101594","article-title":"Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant","volume":"41","author":"Hey","year":"2019","journal-title":"Stem Cell Research"},{"key":"bib60","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22031345","article-title":"BBS proteins affect ciliogenesis and are essential for hedgehog signaling, but not for formation of iPSC-Derived RPE-65 expressing RPE-like cells","volume":"22","author":"Hey","year":"2021","journal-title":"International Journal of Molecular Sciences"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1091\/mbc.E16-11-0813","article-title":"Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors","volume":"28","author":"Hirano","year":"2017","journal-title":"Molecular Biology of the Cell"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1007\/s12035-020-02104-z","article-title":"BBS4 is essential for nuclear transport of transcription factors mediating neuronal ER stress response","volume":"58","author":"Horwitz","year":"2021","journal-title":"Molecular Neurobiology"},{"key":"bib63","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007057","article-title":"BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment","volume":"13","author":"Hsu","year":"2017","journal-title":"PLOS Genetics"},{"key":"bib64","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-65233-4","article-title":"The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina","volume":"10","author":"Hsu","year":"2020","journal-title":"Scientific Reports"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1093\/hmg\/ddaa284","article-title":"Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome","volume":"30","author":"Hsu","year":"2021","journal-title":"Human Molecular Genetics"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"3277","DOI":"10.1091\/mbc.e07-03-0239","article-title":"STAM and Hrs down-regulate ciliary TRP receptors","volume":"18","author":"Hu","year":"2007","journal-title":"Molecular Biology of the Cell"},{"key":"bib67","doi-asserted-by":"publisher","DOI":"10.2147\/RRB.S65700","article-title":"Advances in the understanding of the BBSome complex structure and function","volume":"191","author":"Jenkins","year":"2015","journal-title":"Research and Reports in Biology"},{"key":"bib68","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006469","article-title":"Whole-organism developmental expression profiling identifies RAB-28 as a novel ciliary GTPase associated with the BBSome and intraflagellar transport","volume":"12","author":"Jensen","year":"2016","journal-title":"PLOS Genetics"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/j.jgg.2015.11.006","article-title":"Depletion of BBS protein LZTFL1 affects growth and causes retinal degeneration in mice","volume":"43","author":"Jiang","year":"2016","journal-title":"Journal of Genetics and Genomics = Yi Chuan Xue Bao"},{"key":"bib70","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmet.2021.101308","article-title":"Endothelial BBSome is essential for vascular, metabolic, and retinal functions","volume":"53","author":"Jiang","year":"2021","journal-title":"Molecular Metabolism"},{"key":"bib71","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1016\/j.cell.2010.05.015","article-title":"The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia","volume":"141","author":"Jin","year":"2010","journal-title":"Cell"},{"key":"bib72","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.devcel.2017.05.016","article-title":"The CEP19-RABL2 GTPase complex binds IFT-B to initiate intraflagellar transport at the ciliary base","volume":"42","author":"Kanie","year":"2017","journal-title":"Developmental Cell"},{"key":"bib73","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1086\/428679","article-title":"Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome","volume":"76","author":"Karmous-Benailly","year":"2005","journal-title":"American Journal of Human Genetics"},{"key":"bib74","doi-asserted-by":"publisher","first-page":"2351","DOI":"10.1242\/jcs.168740","article-title":"Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins","volume":"128","author":"Katoh","year":"2015","journal-title":"Journal of Cell Science"},{"key":"bib75","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/79201","article-title":"Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome","volume":"26","author":"Katsanis","year":"2000","journal-title":"Nature Genetics"},{"key":"bib76","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1016\/j.devcel.2012.04.009","article-title":"IFT25 links the signal-dependent movement of Hedgehog components to intraflagellar transport","volume":"22","author":"Keady","year":"2012","journal-title":"Developmental Cell"},{"key":"bib77","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1016\/j.cub.2005.05.024","article-title":"Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes","volume":"15","author":"Keller","year":"2005","journal-title":"Current Biology"},{"key":"bib78","doi-asserted-by":"publisher","first-page":"290","DOI":"10.3109\/13816810.2015.1066830","article-title":"C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies","volume":"37","author":"Khan","year":"2016","journal-title":"Ophthalmic Genetics"},{"key":"bib79","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1038\/ng1352","article-title":"The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression","volume":"36","author":"Kim","year":"2004","journal-title":"Nature Genetics"},{"key":"bib80","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1126\/science.1191184","article-title":"Planar cell polarity acts through septins to control collective cell movement and ciliogenesis","volume":"329","author":"Kim","year":"2010","journal-title":"Science"},{"key":"bib81","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1091\/mbc.E13-09-0526","article-title":"The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone","volume":"25","author":"Klinger","year":"2014","journal-title":"Molecular Biology of the Cell"},{"key":"bib82","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.27434","article-title":"A recombinant BBSome core complex and how it interacts with ciliary cargo","volume":"6","author":"Klink","year":"2017","journal-title":"eLife"},{"key":"bib83","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.53910","article-title":"Structure of the human BBSome core complex","volume":"9","author":"Klink","year":"2020","journal-title":"eLife"},{"key":"bib84","doi-asserted-by":"publisher","first-page":"19569","DOI":"10.1074\/jbc.M115.649202","article-title":"Structural characterization of Bardet-Biedl syndrome 9 protein (BBS9)","volume":"290","author":"Knockenhauer","year":"2015","journal-title":"The Journal of Biological Chemistry"},{"key":"bib85","doi-asserted-by":"publisher","first-page":"1132","DOI":"10.1167\/iovs.18-25210","article-title":"Progressive characterization of visual phenotype in Bardet-Biedl syndrome mutant mice","volume":"60","author":"Kretschmer","year":"2019","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"bib86","doi-asserted-by":"publisher","first-page":"632","DOI":"10.1073\/pnas.1518079113","article-title":"Loss of the BBSome perturbs endocytic trafficking and disrupts virulence of Trypanosoma brucei","volume":"113","author":"Langousis","year":"2016","journal-title":"PNAS"},{"key":"bib87","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1002\/j.1550-8528.1995.tb00166.x","article-title":"Four cases of \u201cretinitis pigmentosa\u201d occurring in the same family, and accompanied by general imperfections of development. 1866","volume":"3","author":"Laurence","year":"1995","journal-title":"Obesity Research"},{"key":"bib88","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1083\/jcb.200909183","article-title":"The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella","volume":"187","author":"Lechtreck","year":"2009","journal-title":"The Journal of Cell Biology"},{"key":"bib89","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1083\/jcb.201207139","article-title":"Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase","volume":"201","author":"Lechtreck","year":"2013","journal-title":"The Journal of Cell Biology"},{"key":"bib90","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.260408","article-title":"Cargo adapters expand the transport range of intraflagellar transport","volume":"135","author":"Lechtreck","year":"2022","journal-title":"Journal of Cell Science"},{"key":"bib91","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1038\/ng.97","article-title":"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome","volume":"40","author":"Leitch","year":"2008","journal-title":"Nature Genetics"},{"key":"bib92","doi-asserted-by":"publisher","first-page":"2407","DOI":"10.1242\/jcs.130344","article-title":"Basal body proteins regulate Notch signaling through endosomal trafficking","volume":"127","author":"Leitch","year":"2014","journal-title":"Journal of Cell Science"},{"key":"bib93","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/j.devcel.2014.09.004","article-title":"The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6\/BBS3","volume":"31","author":"Liew","year":"2014","journal-title":"Developmental Cell"},{"key":"bib94","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1016\/j.ajhg.2014.03.017","article-title":"Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome","volume":"94","author":"Lindstrand","year":"2014","journal-title":"American Journal of Human Genetics"},{"key":"bib95","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1016\/j.ajhg.2015.04.023","article-title":"Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome","volume":"99","author":"Lindstrand","year":"2016","journal-title":"The American Journal of Human Genetics"},{"key":"bib96","doi-asserted-by":"publisher","first-page":"2059","DOI":"10.1172\/JCI71898","article-title":"Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators","volume":"124","author":"Liu","year":"2014","journal-title":"The Journal of Clinical Investigation"},{"key":"bib97","doi-asserted-by":"publisher","first-page":"E934","DOI":"10.1073\/pnas.1713226115","article-title":"The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export","volume":"115","author":"Liu","year":"2018","journal-title":"PNAS"},{"key":"bib98","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.59119","article-title":"Bardet-Biedl syndrome 3 protein promotes ciliary exit of the signaling protein phospholipase D via the BBSome","volume":"10","author":"Liu","year":"2021","journal-title":"eLife"},{"key":"bib99","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202111076","article-title":"ARL3 mediates BBSome ciliary turnover by promoting its outward movement across the transition zone","volume":"221","author":"Liu","year":"2022","journal-title":"The Journal of Cell Biology"},{"key":"bib100","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2218819120","article-title":"Unraveling the intricate cargo-BBSome coupling mechanism at the ciliary tip","volume":"120","author":"Liu","year":"2023","journal-title":"PNAS"},{"key":"bib101","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1002\/jcp.30945","article-title":"RABL4\/IFT27 in a nucleotide-independent manner promotes phospholipase D ciliary retrieval via facilitating BBSome reassembly at the ciliary tip","volume":"238","author":"Liu","year":"2023","journal-title":"Journal of Cellular Physiology"},{"key":"bib102","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/j.devcel.2008.11.001","article-title":"A BBSome subunit links ciliogenesis, microtubule stability, and acetylation","volume":"15","author":"Loktev","year":"2008","journal-title":"Developmental Cell"},{"key":"bib103","doi-asserted-by":"publisher","first-page":"1316","DOI":"10.1016\/j.celrep.2013.11.011","article-title":"Neuropeptide Y family receptors traffic via the Bardet-Biedl syndrome pathway to signal in neuronal primary cilia","volume":"5","author":"Loktev","year":"2013","journal-title":"Cell Reports"},{"key":"bib104","doi-asserted-by":"publisher","first-page":"16385","DOI":"10.1074\/jbc.RA119.010150","article-title":"Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex","volume":"294","author":"Ludlam","year":"2019","journal-title":"The Journal of Biological Chemistry"},{"key":"bib105","doi-asserted-by":"publisher","first-page":"1041","DOI":"10.1038\/s41436-021-01106-z","article-title":"Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome","volume":"23","author":"Luo","year":"2021","journal-title":"Genetics in Medicine"},{"key":"bib106","doi-asserted-by":"publisher","first-page":"1403","DOI":"10.1016\/j.ekir.2020.06.017","article-title":"Exploring key challenges of understanding the pathogenesis of kidney disease in Bardet-Biedl syndrome","volume":"5","author":"Marchese","year":"2020","journal-title":"Kidney International Reports"},{"key":"bib107","doi-asserted-by":"publisher","first-page":"1820","DOI":"10.1073\/pnas.0812518106","article-title":"Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation","volume":"106","author":"Marion","year":"2009","journal-title":"PNAS"},{"key":"bib108","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.cmet.2012.08.005","article-title":"BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response","volume":"16","author":"Marion","year":"2012","journal-title":"Cell Metabolism"},{"key":"bib109","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1136\/jmedgenet-2012-100737","article-title":"Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly","volume":"49","author":"Marion","year":"2012","journal-title":"Journal of Medical Genetics"},{"key":"bib110","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-28982-6","article-title":"Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition","volume":"13","author":"Masek","year":"2022","journal-title":"Nature Communications"},{"key":"bib111","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.049473","article-title":"Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model","volume":"15","author":"Mayer","year":"2022","journal-title":"Disease Models & Mechanisms"},{"key":"bib112","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1242\/dev.113696","article-title":"Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea","volume":"142","author":"May Simera","year":"2015","journal-title":"Development"},{"key":"bib113","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1038\/s41576-023-00587-9","article-title":"Primary cilia as dynamic and diverse signalling hubs in development and disease","volume":"24","author":"Mill","year":"2023","journal-title":"Nature Reviews. Genetics"},{"key":"bib114","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1007\/s13730-020-00472-y","article-title":"Bardet\u2013Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations","volume":"9","author":"Morisada","year":"2020","journal-title":"CEN Case Reports"},{"key":"bib115","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1038\/nsmb.2920","article-title":"Structural basis for membrane targeting of the BBSome by ARL6","volume":"21","author":"Mour\u00e3o","year":"2014","journal-title":"Nature Structural & Molecular Biology"},{"key":"bib116","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1007\/s00439-010-0804-9","article-title":"Identification of 28 novel mutations in the Bardet\u2013Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease","volume":"127","author":"Muller","year":"2010","journal-title":"Human Genetics"},{"key":"bib117","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/88925","article-title":"Identification of the gene that, when mutated, causes the human obesity syndrome BBS4","volume":"28","author":"Mykytyn","year":"2001","journal-title":"Nature Genetics"},{"key":"bib118","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nature Genetics"},{"key":"bib119","doi-asserted-by":"publisher","first-page":"8664","DOI":"10.1073\/pnas.0402354101","article-title":"Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate BBS4 in flagella formation but not global cilia assembly","volume":"101","author":"Mykytyn","year":"2004","journal-title":"PNAS"},{"key":"bib120","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","article-title":"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis","volume":"129","author":"Nachury","year":"2007","journal-title":"Cell"},{"key":"bib121","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/s41580-019-0116-4","article-title":"Establishing and regulating the composition of cilia for signal transduction","volume":"20","author":"Nachury","year":"2019","journal-title":"Nature Reviews. Molecular Cell Biology"},{"key":"bib122","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.cell.2016.11.036","article-title":"An actin network dispatches ciliary GPCRs into extracellular vesicles to modulate signaling","volume":"168","author":"Nager","year":"2017","journal-title":"Cell"},{"key":"bib123","doi-asserted-by":"publisher","first-page":"2068","DOI":"10.1002\/humu.23862","article-title":"Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes","volume":"40","author":"Niederlova","year":"2019","journal-title":"Human Mutation"},{"key":"bib124","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1093\/hmg\/10.8.865","article-title":"Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)","volume":"10","author":"Nishimura","year":"2001","journal-title":"Human Molecular Genetics"},{"key":"bib125","doi-asserted-by":"publisher","first-page":"16588","DOI":"10.1073\/pnas.0405496101","article-title":"Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin","volume":"101","author":"Nishimura","year":"2004","journal-title":"PNAS"},{"key":"bib126","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1086\/498323","article-title":"Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene","volume":"77","author":"Nishimura","year":"2005","journal-title":"American Journal of Human Genetics"},{"key":"bib127","doi-asserted-by":"publisher","DOI":"10.1002\/advs.201801138","article-title":"Primary cilia as signaling hubs in health and disease","volume":"6","author":"Nishimura","year":"2019","journal-title":"Advanced Science"},{"key":"bib128","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0195005","article-title":"BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex","volume":"13","author":"Nozaki","year":"2018","journal-title":"PLOS ONE"},{"key":"bib129","doi-asserted-by":"publisher","DOI":"10.1242\/bio.043786","article-title":"Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia","volume":"8","author":"Nozaki","year":"2019","journal-title":"Biology Open"},{"key":"bib130","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1091\/mbc.E19-07-0402","article-title":"Unraveling the mysteries of centriolar satellites: time to rewrite the textbooks about the centrosome\/cilium complex","volume":"31","author":"Odabasi","year":"2020","journal-title":"Molecular Biology of the Cell"},{"key":"bib131","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1038\/ng.662","article-title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy","volume":"42","author":"Otto","year":"2010","journal-title":"Nature Genetics"},{"key":"bib132","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/nature03818","article-title":"Functional coordination of intraflagellar transport motors","volume":"436","author":"Ou","year":"2005","journal-title":"Nature"},{"key":"bib133","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1009484","article-title":"A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment","volume":"17","author":"Pak","year":"2021","journal-title":"PLOS Genetics"},{"key":"bib134","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1083\/jcb.201506132","article-title":"Smoothened determines \u03b2-arrestin\u2013mediated removal of the G protein\u2013coupled receptor Gpr161 from the primary cilium","volume":"212","author":"Pal","year":"2016","journal-title":"Journal of Cell Biology"},{"key":"bib135","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202255420","article-title":"Composition, organization and mechanisms of the transition zone, a gate for the cilium","volume":"23","author":"Park","year":"2022","journal-title":"EMBO Reports"},{"key":"bib136","doi-asserted-by":"publisher","first-page":"14279","DOI":"10.1074\/jbc.RA120.013905","article-title":"The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells","volume":"295","author":"Prasai","year":"2020","journal-title":"The Journal of Biological Chemistry"},{"key":"bib137","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1161\/HYPERTENSIONAHA.119.13382","article-title":"Smooth muscle cell-specific disruption of the BBSome causes vascular dysfunction","volume":"74","author":"Reho","year":"2019","journal-title":"Hypertension"},{"key":"bib138","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1016\/j.cell.2011.04.019","article-title":"Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways","volume":"145","author":"Sang","year":"2011","journal-title":"Cell"},{"key":"bib139","doi-asserted-by":"publisher","first-page":"3655","DOI":"10.1093\/hmg\/ddn260","article-title":"Genetic and physical interaction between the NPHP5 and NPHP6 gene products","volume":"17","author":"Sch\u00e4fer","year":"2008","journal-title":"Human Molecular Genetics"},{"key":"bib140","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1002\/humu.21509","article-title":"U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation","volume":"32","author":"Schmid","year":"2011","journal-title":"Human Mutation"},{"key":"bib141","doi-asserted-by":"publisher","first-page":"1323","DOI":"10.1093\/hmg\/ddp031","article-title":"Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling","volume":"18","author":"Seo","year":"2009","journal-title":"Human Molecular Genetics"},{"key":"bib142","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1073\/pnas.0910268107","article-title":"BBS6, BBS10, and BBS12 form a complex with CCT\/TRiC family chaperonins and mediate BBSome assembly","volume":"107","author":"Seo","year":"2010","journal-title":"PNAS"},{"key":"bib143","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002358","article-title":"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened","volume":"7","author":"Seo","year":"2011","journal-title":"PLOS Genetics"},{"key":"bib144","doi-asserted-by":"publisher","first-page":"6118","DOI":"10.1167\/iovs.13-11673","article-title":"Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1","volume":"54","author":"Seo","year":"2013","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"bib145","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.202003020","article-title":"Ubiquitin chains earmark GPCRs for BBSome-mediated removal from cilia","volume":"219","author":"Shinde","year":"2020","journal-title":"Journal of Cell Biology"},{"key":"bib146","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1016\/j.devcel.2023.03.003","article-title":"The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia","volume":"58","author":"Shinde","year":"2023","journal-title":"Developmental Cell"},{"key":"bib147","doi-asserted-by":"publisher","first-page":"6276","DOI":"10.1073\/pnas.1019222108","article-title":"Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model","volume":"108","author":"Simons","year":"2011","journal-title":"PNAS"},{"key":"bib148","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-019-0466-z","article-title":"Absence of BBSome function leads to astrocyte reactivity in the brain","volume":"12","author":"Singh","year":"2019","journal-title":"Molecular Brain"},{"key":"bib149","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.53322","article-title":"Structure and activation mechanism of the BBSome membrane protein trafficking complex","volume":"9","author":"Singh","year":"2020","journal-title":"eLife"},{"key":"bib150","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1038\/79116","article-title":"Mutations in MKKS cause Bardet-Biedl syndrome","volume":"26","author":"Slavotinek","year":"2000","journal-title":"Nature Genetics"},{"key":"bib151","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.578528","article-title":"Cone photoreceptor degeneration and neuroinflammation in the zebrafish Bardet-Biedl Syndrome 2 (bbs2) mutant does not lead to retinal regeneration","volume":"8","author":"Song","year":"2020","journal-title":"Frontiers in Cell and Developmental Biology"},{"key":"bib152","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005311","article-title":"Regulation of insulin receptor trafficking by bardet biedl syndrome proteins","volume":"11","author":"Starks","year":"2015","journal-title":"PLOS Genetics"},{"key":"bib153","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1038\/ng1771","article-title":"BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus","volume":"38","author":"Stoetzel","year":"2006","journal-title":"Nature Genetics"},{"key":"bib154","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1086\/510256","article-title":"Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome","volume":"80","author":"Stoetzel","year":"2007","journal-title":"American Journal of Human Genetics"},{"key":"bib155","doi-asserted-by":"publisher","first-page":"3322","DOI":"10.1091\/mbc.E12-02-0134","article-title":"The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium","volume":"23","author":"Stowe","year":"2012","journal-title":"Molecular Biology of the Cell"},{"key":"bib156","doi-asserted-by":"publisher","first-page":"5441","DOI":"10.1093\/hmg\/ddu267","article-title":"Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein","volume":"23","author":"Su","year":"2014","journal-title":"Human Molecular Genetics"},{"key":"bib157","doi-asserted-by":"publisher","first-page":"4063","DOI":"10.1242\/jcs.160556","article-title":"Regulation of polycystin-1 ciliary trafficking by motifs at its C-terminus and polycystin-2 but not cleavage at GPS site","volume":"128","author":"Su","year":"2015","journal-title":"Journal of Cell Science"},{"key":"bib158","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2101590118","article-title":"Chlamydomonas LZTFL1 mediates phototaxis via controlling BBSome recruitment to the basal body and its reassembly at the ciliary tip","volume":"118","author":"Sun","year":"2021","journal-title":"PNAS"},{"key":"bib159","doi-asserted-by":"publisher","first-page":"10320","DOI":"10.1073\/pnas.1016531108","article-title":"Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting","volume":"108","author":"Tadenev","year":"2011","journal-title":"PNAS"},{"key":"bib160","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1093\/jb\/mvy100","article-title":"C11ORF74 interacts with the IFT-A complex and participates in ciliary BBSome localization","volume":"165","author":"Takahara","year":"2019","journal-title":"Journal of Biochemistry"},{"key":"bib161","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.sbi.2020.10.021","article-title":"Accessorizing the centrosome: new insights into centriolar appendages and satellites","volume":"66","author":"Tischer","year":"2021","journal-title":"Current Opinion in Structural Biology"},{"key":"bib162","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/978-3-319-95046-4","article-title":"Ciliopathy: Bardet-biedl syndrome","volume":"1085","author":"Tsang","year":"2018","journal-title":"Advances in Experimental Medicine and Biology"},{"key":"bib163","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202050785","article-title":"Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance","volume":"22","author":"Tsyklauri","year":"2021","journal-title":"EMBO Reports"},{"key":"bib164","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.222331","article-title":"BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia","volume":"132","author":"Uytingco","year":"2019","journal-title":"Journal of Cell Science"},{"key":"bib165","doi-asserted-by":"publisher","first-page":"6943","DOI":"10.1073\/pnas.1221011110","article-title":"Evolution of modular intraflagellar transport from a coatomer-like progenitor","volume":"110","author":"van Dam","year":"2013","journal-title":"PNAS"},{"key":"bib166","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2021.107836","article-title":"Signal transduction in primary cilia - analyzing and manipulating GPCR and second messenger signaling","volume":"224","author":"Wachten","year":"2021","journal-title":"Pharmacology & Therapeutics"},{"key":"bib167","doi-asserted-by":"publisher","DOI":"10.1172\/JCI146287","article-title":"Bardet-Biedl syndrome proteins regulate intracellular signaling and neuronal function in patient-specific iPSC-derived neurons","volume":"131","author":"Wang","year":"2021","journal-title":"The Journal of Clinical Investigation"},{"key":"bib168","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2022.105493","article-title":"Assembly and stability of IFT-B complex and its function in BBSome trafficking","volume":"25","author":"Wang","year":"2022","journal-title":"IScience"},{"key":"bib169","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1038\/ncb2560","article-title":"The BBSome controls IFT assembly and turnaround in cilia","volume":"14","author":"Wei","year":"2012","journal-title":"Nature Cell Biology"},{"key":"bib170","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms6813","article-title":"Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia","volume":"5","author":"Williams","year":"2014","journal-title":"Nature Communications"},{"key":"bib171","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1016\/j.ymthe.2017.02.006","article-title":"Gene therapeutic reversal of peripheral olfactory impairment in Bardet-Biedl Syndrome","volume":"25","author":"Williams","year":"2017","journal-title":"Molecular Therapy"},{"key":"bib172","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.26609","article-title":"IFT trains in different stages of assembly queue at the ciliary base for consecutive release into the cilium","volume":"6","author":"Wingfield","year":"2017","journal-title":"eLife"},{"key":"bib173","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.259010","article-title":"In vivo imaging shows continued association of several IFT-A, IFT-B and dynein complexes while IFT trains U-turn at the tip","volume":"134","author":"Wingfield","year":"2021","journal-title":"Journal of Cell Science"},{"key":"bib174","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1006\/geno.1998.5626","article-title":"Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus","volume":"55","author":"Woods","year":"1999","journal-title":"Genomics"},{"key":"bib175","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1038\/nmeth.4464","article-title":"Protein interaction perturbation profiling at amino-acid resolution","volume":"14","author":"Woodsmith","year":"2017","journal-title":"Nature Methods"},{"key":"bib176","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1038\/s41431-019-0347-z","article-title":"SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome","volume":"27","author":"Wormser","year":"2019","journal-title":"European Journal of Human Genetics"},{"key":"bib177","doi-asserted-by":"publisher","DOI":"10.1038\/srep11855","article-title":"BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors","volume":"5","author":"Xu","year":"2015","journal-title":"Scientific Reports"},{"key":"bib178","doi-asserted-by":"publisher","first-page":"2496","DOI":"10.1073\/pnas.1901665117","article-title":"Intraflagellar transport protein RABL5\/IFT22 recruits the BBSome to the basal body through the GTPase ARL6\/BBS3","volume":"117","author":"Xue","year":"2020","journal-title":"PNAS"},{"key":"bib179","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.55954","article-title":"Near-atomic structures of the BBSome reveal the basis for BBSome activation and binding to GPCR cargoes","volume":"9","author":"Yang","year":"2020","journal-title":"eLife"},{"key":"bib180","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1083\/jcb.201709041","article-title":"BBSome trains remove activated GPCRs from cilia by enabling passage through the transition zone","volume":"217","author":"Ye","year":"2018","journal-title":"The Journal of Cell Biology"},{"key":"bib181","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005627","article-title":"Conserved genetic interactions between ciliopathy complexes cooperatively support ciliogenesis and ciliary signaling","volume":"11","author":"Yee","year":"2015","journal-title":"PLOS Genetics"},{"key":"bib182","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1093\/hmg\/ddi468","article-title":"Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer\u2019s vesicle cilia function","volume":"15","author":"Yen","year":"2006","journal-title":"Human Molecular Genetics"},{"key":"bib183","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1086\/302301","article-title":"A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31","volume":"64","author":"Young","year":"1999","journal-title":"American Journal of Human Genetics"},{"key":"bib184","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0240887","article-title":"The BBSome restricts entry of tagged carbonic anhydrase 6 into the cis-flagellum of Chlamydomonas reinhardtii","volume":"15","author":"Yu","year":"2020","journal-title":"PLOS ONE"},{"key":"bib185","doi-asserted-by":"publisher","first-page":"20678","DOI":"10.1073\/pnas.1113220108","article-title":"Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes","volume":"108","author":"Zhang","year":"2011","journal-title":"PNAS"},{"key":"bib186","doi-asserted-by":"publisher","first-page":"1945","DOI":"10.1093\/hmg\/dds004","article-title":"BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes","volume":"21","author":"Zhang","year":"2012","journal-title":"Human Molecular Genetics"},{"key":"bib187","doi-asserted-by":"publisher","first-page":"20625","DOI":"10.1074\/jbc.M112.341487","article-title":"Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome","volume":"287","author":"Zhang","year":"2012","journal-title":"The Journal of Biological Chemistry"},{"key":"bib188","doi-asserted-by":"publisher","first-page":"2372","DOI":"10.1242\/jcs.111740","article-title":"BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking","volume":"126","author":"Zhang","year":"2013","journal-title":"Journal of Cell Science"},{"key":"bib189","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1093\/hmg\/ddt394","article-title":"BBS mutations modify phenotypic expression of CEP290-related ciliopathies","volume":"23","author":"Zhang","year":"2014","journal-title":"Human Molecular Genetics"},{"key":"bib190","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1074\/jbc.M116.765438","article-title":"DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) regulates the centriolar satellite localization of the BBSome protein during the cell cycle","volume":"292","author":"Zhang","year":"2017","journal-title":"The Journal of Biological Chemistry"},{"key":"bib191","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1016\/j.devcel.2022.05.005","article-title":"A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation","volume":"57","author":"Zhang","year":"2022","journal-title":"Developmental Cell"},{"key":"bib192","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1161\/HYPERTENSIONAHA.121.17946","article-title":"BBSome: a new player in hypertension and other cardiovascular risks","volume":"79","author":"Zhao","year":"2022","journal-title":"Hypertension"},{"key":"bib193","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E22-05-0161","article-title":"CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export","volume":"33","author":"Zhou","year":"2022","journal-title":"Molecular Biology of the Cell"},{"key":"bib194","doi-asserted-by":"publisher","first-page":"1681","DOI":"10.1093\/hmg\/ddab354","article-title":"Impaired cooperation between IFT74\/BBS22-IFT81 and IFT25-IFT27\/BBS19 causes Bardet-Biedl syndrome","volume":"31","author":"Zhou","year":"2022","journal-title":"Human Molecular Genetics"}],"container-title":["eLife"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/cdn.elifesciences.org\/articles\/87623\/elife-87623-v1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/cdn.elifesciences.org\/articles\/87623\/elife-87623-v1.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/elifesciences.org\/articles\/87623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:16:43Z","timestamp":1697059003000},"score":1,"resource":{"primary":{"URL":"https:\/\/elifesciences.org\/articles\/87623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,19]]},"references-count":194,"alternative-id":["10.7554\/eLife.87623"],"URL":"https:\/\/doi.org\/10.7554\/elife.87623","archive":["CLOCKSS"],"relation":{},"ISSN":["2050-084X"],"issn-type":[{"value":"2050-084X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,19]]},"assertion":[{"value":"single anonymised","name":"peer_review_transparency","label":"Peer review transparency","group":{"name":"peer_review_taxonomy"}},{"value":"other reviewer(s), editor","name":"peer_review_interaction","label":"Peer review interaction","group":{"name":"peer_review_taxonomy"}},{"value":"review summaries, review reports, author\/editor communication, reviewer identities reviewer opt in, editor identities","name":"peer_review_published","label":"Peer review published","group":{"name":"peer_review_taxonomy"}},{"value":"open (sign in with ORCID iD required)","name":"post_publication_commenting","label":"Post publication commenting","group":{"name":"post_publication_commenting"}}],"article-number":"e87623"}}