Results 11 to 20 of about 2,827 (178)

Ciliary ARL13B Is Essential for Vision and Morphogenesis of Cone Outer Segments. [PDF]

J Neurosci
Mutations in ARL13B lead to Joubert syndrome, a ciliopathy with neurological and retinal abnormalities. In photoreceptors, ARL13B localizes to the connecting cilia and outer segments. However, the specific function and the need for ARL13B in photoreceptor cilia remain unclear.
Crockett A, Kuzak S, Saravanan T, Guan T, Caspary T, Aliff H, Holmes G, Moakedi F, Ramamurthy V.   +8 more
europepmc   +5 more sources

Ciliary ARL13B inhibits developmental kidney cystogenesis in mouse [PDF]

Developmental Biology, 2023
AbstractARL13B is a small GTPase enriched in cilia. Deletion ofArl13bin mouse kidney results in renal cysts and an associated absence of primary cilia. Similarly, ablation of cilia leads to kidney cysts. To investigate whether ARL13B functions from within cilia to direct kidney development, we examined kidneys of mice expressing an engineered cilia ...
Robert E. Van Sciver, Alyssa B. Long, Harrison Katz, Eduardo D. Gigante, Tamara Caspary   +4 more
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Smoothened and ARL13B are critical in mouse for superior cerebellar peduncle targeting [PDF]

Genetics, 2021
Abstract Patients with the ciliopathy Joubert syndrome present with physical anomalies, intellectual disability, and a hindbrain malformation described as the “molar tooth sign” due to its appearance on an MRI. This radiological abnormality results from a combination of hypoplasia of the cerebellar vermis and inappropriate targeting ...
Sarah K. Suciu, Alyssa B. Long, Tamara Caspary   +2 more
openalex   +5 more sources

Arl13b regulates endocytic recycling traffic [PDF]

Proceedings of the National Academy of Sciences, 2012
Intracellular recycling pathways play critical roles in internalizing membrane and fluid phase cargo and in balancing the inflow and outflow of membrane and cell surface molecules. To identify proteins involved in the regulation of endocytic recycling, we used an shRNA trafficking library and screened for changes in the surface expression of CD1a ...
Duarte C. Barral, Salil Garg, Cristina Casalou, Gerald F. Watts, José Luís Sandoval, José S. Ramalho, Victor W. Hsu, Michael B. Brenner   +7 more
openalex   +4 more sources

Arl13b interferes with α-tubulin acetylation [PDF]

Cilia, 2015
Methods We used the zebrafish Kupffer’s vesicle as a dynamic ciliary growth system and performed a seven hour timecourse experiment comparing the length of cilia measured by Arl13b-GFP or by acetylated a-tubulin. In order to evaluate the specificity of the alterations in a-tubulin acetylation pattern, we overexpressed different ciliary proteins that ...
Petra Pintado, Cecília Seixas, Duarte C. Barral, Susana S. Lopes   +3 more
openalex   +2 more sources

ARL13B-Cerulean rescues Arl13b-null mouse from embryonic lethality and reveals a role for ARL13B in spermatogenesis. [PDF]

J Cell Sci
ABSTRACT ARL13B is a regulatory GTPase enriched in cilia, making it a popular marker for this organelle. Arl13bhnn/hnn mice lack ARL13B expression, die during mid-gestation, and exhibit defects in ciliogenesis. The R26Arl13b-Fucci2aR biosensor mouse line directs the expression of fluorescently tagged full-length Arl13b cDNA upon Cre ...
Long AB, Wilson IM, Terry TT, Van Sciver RE, Caspary T.   +4 more
europepmc   +3 more sources

Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration [PDF]

Journal of Cell Science, 2019
ABSTRACT Mutations in the Abelson-helper integration site 1 (AHI1) gene are associated with neurological/neuropsychiatric disorders, and cause the neurodevelopmental ciliopathy Joubert syndrome (JBTS). Here, we show that deletion of the transition zone (TZ) protein Ahi1 in mouse embryonic fibroblasts (MEFs) has a small effect on cilia ...
Jesús Muñoz‐Estrada, Russell J. Ferland   +1 more
openalex   +3 more sources

Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation [PDF]

Proceedings of the National Academy of Sciences, 2018
Significance Medulloblastoma is the most common malignant pediatric brain tumor. Current therapies are associated with negative side effects, and one-fourth of patients are treatment-resistant or develop tumor progression. Since 30% of medulloblastomas exhibit activation of the Sonic hedgehog (Shh) pathway, much research centers on ...
Sarah Bay, Alyssa B. Long, Tamara Caspary   +2 more
openalex   +3 more sources

Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry

Biology Open, 2021
Compositions of proteins and lipids within cilia and on the ciliary membrane are maintained to be distinct from those of the cytoplasm and plasma membrane, respectively, by the presence of the ciliary gate. INPP5E is a phosphoinositide 5-phosphatase that
Hantian Qiu, Sayaka Fujisawa, Shohei Nozaki, Yohei Katoh, Kazuhisa Nakayama   +4 more
doaj   +1 more source

The ciliary GTPase Arl13b regulates cell migration and cell cycle progression [PDF]

Cell Adhesion & Migration, 2016
The GTPase ARL13B is localized to primary cilia; small cellular protrusions that act as antennae. Its defective ARL13B hennin (HNN) variant is linked causally with Joubert Syndrome, a developmental ciliopathy attributed to poor sensing of extracellular chemical gradients.
Michal Pruski, Ann M. Rajnicek, Zhifu Yang, Hannah Clancy, Yu‐Qiang Ding, Colin McCaig, Bing Lang   +6 more
openalex   +5 more sources