| Novel compound heterozygous variants in ARL13B lead to Joubert syndrome. | Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
Lin Z, Shen Y, Li Y, Lu C, Zhu Y, He R, Cao Z, Yin Z, Gao H, Guo B, Ma X, Cao M, Luo M. | 05/20/2024 |
| Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia. | Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.
Shi P, Tian J, Mallinger JC, Ling D, Deleyrolle LP, McIntyre JC, Caspary T, Breunig JJ, Sarkisian MR., Free PMC Article | 11/28/2023 |
| Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence. | Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence.
Mahajan D, Madugula V, Lu L., Free PMC Article | 06/1/2023 |
| TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. | TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia.
Yinsheng Z, Miyoshi K, Qin Y, Fujiwara Y, Yoshimura T, Katayama T. | 11/19/2022 |
| ARL3 activation requires the co-GEF BART and effector-mediated turnover. | ARL3 activation requires the co-GEF BART and effector-mediated turnover.
ElMaghloob Y, Sot B, McIlwraith MJ, Garcia E, Yelland T, Ismail S., Free PMC Article | 01/29/2022 |
| Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry. | Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry.
Qiu H, Fujisawa S, Nozaki S, Katoh Y, Nakayama K., Free PMC Article | 01/1/2022 |
| RAB family small GTP binding protein RAB 23 (Rab23) and ADP-ribosylation factor-like 13B (Arl13b) have been implicated in ciliopathy-associated human diseases and could regulate hedgehog proteins (Hh) signalling cascade in multifaceted manners [Review]. | Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.
Hor CH, Goh EL. | 07/11/2020 |
| Authors propose a so far unknown function of ARL13B in anchoring ciliary membrane proteins to the axoneme through the direct interaction of its G-domain with tubulin. | The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane.
Revenkova E, Liu Q, Gusella GL, Iomini C., Free PMC Article | 12/7/2019 |
| Formation of primary cilia is downregulated in TULP3-knockout (KO) RPE1 cells. ARL13B and INPP5E fail to localize to primary cilia in TULP3-KO cells. | TULP3 is required for localization of membrane-associated proteins ARL13B and INPP5E to primary cilia.
Han S, Miyoshi K, Shikada S, Amano G, Wang Y, Yoshimura T, Katayama T. | 10/12/2019 |
| Joubert syndrome protein ARL13B controls axoneme polyglutamylation. | Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules.
He K, Ma X, Xu T, Li Y, Hodge A, Zhang Q, Torline J, Huang Y, Zhao J, Ling K, Hu J., Free PMC Article | 12/22/2018 |
| A novel homozygous loss of function mutation in ARL13B was identified in patients with Joubert syndrome | A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA., Free PMC Article | 07/28/2018 |
| High Arl13b expression is associated with medulloblastoma formation. | Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation.
Bay SN, Long AB, Caspary T., Free PMC Article | 07/28/2018 |
| the results show that palmitoylation plays a unique and critical role in controlling the localization, stability, abundance, and thus function of ARL13b. Pharmacological manipulation of protein palmitoylation may be a strategy to alter cilia function. | Palmitoylation of the ciliary GTPase ARL13b is necessary for its stability and its role in cilia formation.
Roy K, Jerman S, Jozsef L, McNamara T, Onyekaba G, Sun Z, Marin EP., Free PMC Article | 11/4/2017 |
| Our results show how Arl13b participates in Hedgehog pathway activation in gastric cancer | Arl13b Promotes Gastric Tumorigenesis by Regulating Smo Trafficking and Activation of the Hedgehog Signaling Pathway.
Shao J, Xu L, Chen L, Lu Q, Xie X, Shi W, Xiong H, Shi C, Huang X, Mei J, Rao H, Lu H, Lu N, Luo S., Free PMC Article | 09/30/2017 |
| Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria. | Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.
Thorpe SD, Gambassi S, Thompson CL, Chandrakumar C, Santucci A, Knight MM., Free PMC Article | 08/12/2017 |
| ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E. | Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.
Nozaki S, Katoh Y, Terada M, Michisaka S, Funabashi T, Takahashi S, Kontani K, Nakayama K. | 08/5/2017 |
| Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).( | Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF).
Ivanova AA, Caspary T, Seyfried NT, Duong DM, West AB, Liu Z, Kahn RA., Free PMC Article | 07/8/2017 |
| Thus our data identify a novel ARL13B variant that causes JS and retinopathy and suggest an extension of the phenotypic spectrum of ARL13B mutations to obesity. | Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T., Free PMC Article | 01/16/2016 |
| We conclude that MKS/NPHP modules comprise a TZ barrier to ARL-13 diffusion, whereas IFT genes predominantly facilitate ARL-13 ciliary entry and/or retention via active transport mechanisms. | Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE., Free PMC Article | 08/23/2014 |
| X-ray crystallography of Arl13B demonstrates involvement of mutations R79Q and R200C in stabilizing intramolecular interactions. | Structural insights into the small G-protein Arl13B and implications for Joubert syndrome.
Miertzschke M, Koerner C, Spoerner M, Wittinghofer A. | 03/1/2014 |
| Arl13b acts as the all-rounder in cilia formation and signaling (Review). | Molecular views of Arf-like small GTPases in cilia and ciliopathies.
Zhang Q, Hu J, Ling K., Free PMC Article | 10/26/2013 |
| findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins | ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S., Free PMC Article | 02/23/2013 |
| These results indicate a previously unidentified role for Arl13b in endocytic recycling traffic and suggest a link between Arl13b function and the actin cytoskeleton. | Arl13b regulates endocytic recycling traffic.
Barral DC, Garg S, Casalou C, Watts GF, Sandoval JL, Ramalho JS, Hsu VW, Brenner MB., Free PMC Article | 02/23/2013 |
| data reveal a novel but conserved role for the SUMOylation modification of ciliary small GTPase ARL13B in specifically regulating the proper ciliary targeting of various sensory receptors | SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors.
Li Y, Zhang Q, Wei Q, Zhang Y, Ling K, Hu J., Free PMC Article | 02/23/2013 |
| Expression of Arl13b variants known to cause Joubert syndrome induce defective interneuronal migration, suggesting that defects in cilia-dependent interneuron migration may in part underlie the neurological defects in Joubert syndrome patients. | Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex.
Higginbotham H, Eom TY, Mariani LE, Bachleda A, Hirt J, Gukassyan V, Cusack CL, Lai C, Caspary T, Anton ES., Free PMC Article | 02/2/2013 |