{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hanke-Gogokhia C"],"funding":["Retina Research Foundation Houston","HHS NIH National Eye Institute (NEI)","NEI NIH HHS","Research to Prevent Blindness (RPB)"],"pagination":["21442-21456"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5766971"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["292(52)"],"pubmed_abstract":["Arf-like protein 13b (ARL13b) is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G-domain inactivate GEF activity and lead to Joubert syndrome (JS) in humans. However, the molecular mechanisms in ARL13b mutation-induced Joubert syndrome, particularly the function of primary cilia, are still incompletely understood. Because <i>Arl13b</i> germline knockouts in mouse are lethal, we generated retina-specific deletions of ARL13b in which ARL3-GTP formation is impaired. In mouse <sup>ret</sup><i>Arl13b</i><sup>-/-</sup> central retina at postna"],"journal":["The Journal of biological chemistry"],"pubmed_title":["The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment."],"pmcid":["PMC5766971"],"funding_grant_id":["graduate student fellowship","EY014800–039003","Unrestricted Grant","P30 EY014800","R01 EY019298","EY019298","R01 EY008123","EY08123","T32 EY024234"],"pubmed_authors":["Wu Z","Sharif A","Baehr W","Frederick JM","Hanke-Gogokhia C","Yazigi H"],"additional_accession":[]},"is_claimable":false,"name":"The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.","description":"Arf-like protein 13b (ARL13b) is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G-domain inactivate GEF activity and lead to Joubert syndrome (JS) in humans. However, the molecular mechanisms in ARL13b mutation-induced Joubert syndrome, particularly the function of primary cilia, are still incompletely understood. Because <i>Arl13b</i> germline knockouts in mouse are lethal, we generated retina-specific deletions of ARL13b in which ARL3-GTP formation is impaired. In mouse <sup>ret</sup><i>Arl13b</i><sup>-/-</sup> central retina at postna","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Dec","modification":"2025-04-05T11:15:29.269Z","creation":"2019-03-26T22:33:20Z"},"accession":"S-EPMC5766971","cross_references":{"pubmed":["29089384"],"doi":["10.1074/jbc.ra117.000141","10.1074/jbc.RA117.000141"]}}