{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T19:42:39Z","timestamp":1792698159409,"version":"4.5.0"},"reference-count":52,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>\n                    The gene for ADP ribosylation factor\u2013like GTPase 13B (\n                    <jats:italic toggle=\"yes\">Arl13b<\/jats:italic>\n                    ) encodes a small GTPase essential for cilia biogenesis in multiple model organisms. Inactivation of\n                    <jats:italic toggle=\"yes\">arl13b<\/jats:italic>\n                    in zebrafish leads to a number of phenotypes indicative of defective cilia, including cystic kidneys. In mouse, null mutation in\n                    <jats:italic toggle=\"yes\">Arl13b<\/jats:italic>\n                    results in severe patterning defects in the neural tube and defective Hedgehog signaling. Human mutations of\n                    <jats:italic toggle=\"yes\">ARL13B<\/jats:italic>\n                    lead to Joubert syndrome, a ciliopathy. However, patients with mutated\n                    <jats:italic toggle=\"yes\">ARL13B<\/jats:italic>\n                    do not develop kidney cysts. To investigate whether Arl13b has a role in ciliogenesis in mammalian kidney and whether loss of function of Arl13b leads to cystic kidneys in mammals, we generated a mouse model with kidney\u2013specific conditional knockout of\n                    <jats:italic toggle=\"yes\">Arl13b<\/jats:italic>\n                    . Deletion of\n                    <jats:italic toggle=\"yes\">Arl13b<\/jats:italic>\n                    in the distal nephron at the perinatal stage led to a cilia biogenesis defect and rapid kidney cyst formation. Additionally, we detected misregulation of multiple pathways in the cystic kidneys of this model. Moreover, valproic acid, a histone deacetylase inhibitor that we previously showed slows cyst progression in a mouse cystic kidney model with neonatal inactivation of\n                    <jats:italic toggle=\"yes\">Pkd1<\/jats:italic>\n                    , inhibited the early rise of\n                    <jats:italic toggle=\"yes\">Wnt7a<\/jats:italic>\n                    expression, ameliorated fibrosis, slowed cyst progression, and improved kidney function in the\n                    <jats:italic toggle=\"yes\">Arl13b<\/jats:italic>\n                    mutant mouse. Finally, in rescue experiments in zebrafish, all\n                    <jats:italic toggle=\"yes\">ARL13B<\/jats:italic>\n                    allele combinations identified in patients with Joubert syndrome provided residual Arl13b function, supporting the idea that the lack of cystic kidney phenotype in human patients with\n                    <jats:italic toggle=\"yes\">ARL13B<\/jats:italic>\n                    mutations is explained by the hypomorphic nature of the mutations.\n                  <\/jats:p>","DOI":"10.1681\/asn.2015091004","type":"journal-article","created":{"date-parts":[[2016,5,7]],"date-time":"2016-05-07T08:54:07Z","timestamp":1462611247000},"page":"3628-3638","source":"Crossref","is-referenced-by-count":58,"title":["Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts"],"prefix":"10.1681","volume":"27","author":[{"given":"Yuanyuan","family":"Li","sequence":"first","affiliation":[{"name":"Departments of *Genetics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Tian","sequence":"additional","affiliation":[{"name":"Internal Medicine, Yale University School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Ma","sequence":"additional","affiliation":[{"name":"Internal Medicine, Yale University School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Jerman","sequence":"additional","affiliation":[{"name":"Departments of *Genetics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanshan","family":"Kong","sequence":"additional","affiliation":[{"name":"Departments of *Genetics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Somlo","sequence":"additional","affiliation":[{"name":"Departments of *Genetics and"},{"name":"Internal Medicine, Yale University School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaoxia","family":"Sun","sequence":"additional","affiliation":[{"name":"Departments of *Genetics and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2016,5,6]]},"reference":[{"key":"B1-20231016","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1681\/ASN.2008050456","article-title":"Nephronophthisis: Disease mechanisms of a ciliopathy.","volume":"20","author":"Hildebrandt","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"B2-20231016","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.200107108","article-title":"The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance.","volume":"157","author":"Pazour","year":"2002","journal-title":"J Cell 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