Results 41 to 50 of about 2,827 (178)

Arl13b influences cilia length in the zebrafish Kupffer’s vesicle [PDF]

Cilia, 2013
Joubert Syndrome is a ciliopathy that can be caused by a mutation in Arl13b protein. This syndrome is characterized by problems in embryonic development, especially at the neurological level. Arl13b is a protein that belongs to the small GTPase family, but presents the double size of a normal GTPase, because it has a different C-terminus with a coiled ...
Pintado, P, Barral, D, Lopes, SS
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The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance

Cell Reports, 2019
Summary: The small GTPase Arl13b is enriched in primary cilia and regulates Sonic hedgehog (Shh) signaling. During neural development, Shh controls patterning and proliferation through a canonical, transcription-dependent pathway that requires the ...
Julien Ferent, Sandii Constable, Eduardo D. Gigante, Patricia T. Yam, Laura E. Mariani, Emilie Legué, Karel F. Liem, Jr., Tamara Caspary, Frédéric Charron   +8 more
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Tumor Treating Fields Suppression of Ciliogenesis Enhances Temozolomide Toxicity

Frontiers in Oncology, 2022
Tumor Treating Fields (TTFields) are low-intensity, alternating intermediate-frequency (200 kHz) electrical fields that extend survival of glioblastoma patients receiving maintenance temozolomide (TMZ) chemotherapy.
Ping Shi, Jia Tian, Brittany S. Ulm, Julianne C. Mallinger, Habibeh Khoshbouei, Loic P. Deleyrolle, Loic P. Deleyrolle, Matthew R. Sarkisian, Matthew R. Sarkisian   +8 more
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A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins

eLife, 2015
Small G-proteins of the ADP-ribosylation-factor-like (Arl) subfamily have been shown to be crucial to ciliogenesis and cilia maintenance. Active Arl3 is involved in targeting and releasing lipidated cargo proteins from their carriers PDE6δ and UNC119a/b ...
Katja Gotthardt, Mandy Lokaj, Carolin Koerner, Nathalie Falk, Andreas Gießl, Alfred Wittinghofer   +5 more
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Arl13b and the exocyst interact synergistically in ciliogenesis

Molecular Biology of the Cell, 2016
Arl13b belongs to the ADP-ribosylation factor family within the Ras superfamily of regulatory GTPases. Mutations in Arl13b cause Joubert syndrome, which is characterized by congenital cerebellar ataxia, hypotonia, oculomotor apraxia, and mental retardation.
Seixas, Cecília, Choi, Soo Young, Polgar, Noemi, Umberger, Nicole L., East, Michael P., Zuo, Xiaofeng, Moreiras, Hugo, Ghossoub, Rania, Benmerah, Alexandre, Kahn, Richard A., Fogelgren, Ben, Caspary, Tamara, Lipschutz, Joshua H., Barral, Duarte C.   +13 more
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A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease

Frontiers in Genetics, 2022
Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-associated proteins to the intraflagellar transport ...
Hossein Jafari Khamirani, Vivek Reddy Palicharla, Seyed Alireza Dastgheib, Mehdi Dianatpour, Mehdi Dianatpour, Mohammad Hadi Imanieh, Seyed Sajjad Tabei, Whitney Besse, Saikat Mukhopadhyay, Karel F. Liem   +9 more
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The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish [PDF]

Neuroscience Bulletin, 2020
AbstractJoubert syndrome is characterized by unique malformation of the cerebellar vermis. More than thirty Joubert syndrome genes have been identified, includingARL13B. However, its role in cerebellar development remains unexplored. We found that knockdown or knockout ofarl13bimpaired balance and locomotion in zebrafish larvae.
Jian Zhu, Han-Tsing Wang, Yu-Rong Chen, Ling-Ya Yan, Ying-Ying Han, Ling-Yan Liu, Ying Cao, Zhi-Zhi Liu, Hong A. Xu   +8 more
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A transgenic zebrafish for in vivo visualization of cilia

Open Biology, 2022
Cilia are organelles for cellular signalling and motility. Mutations affecting ciliary function are also associated with cilia-related disorders (ciliopathies).
Hongyu Zhang, Zhuoya Huang, Liuliu LV, Yuye Xin, Qian Wang, Feng Li, Lina Dong, Changxin Wu, Philip W. Ingham, Zhonghua Zhao   +9 more
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A case of Joubert syndrome caused by novel compound heterozygous variants in the gene

Journal of International Medical Research, 2023
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging.
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky   +9 more
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Arl13b Regulates Breast Cancer Cell Migration and Invasion by Controlling Integrin-Mediated Signaling [PDF]

Cancers, 2019
Breast cancer is the first cause of cancer-related mortality among women worldwide, according to the most recent estimates. This mortality is mainly caused by the tumors’ ability to form metastases. Cancer cell migration and invasion are essential for metastasis and rely on the interplay between actin cytoskeleton remodeling and cell adhesion ...
Cristina Casalou, Alexandra Faustino, Fernanda Silva, Inês C. Ferreira, Daniela Vaqueirinho, Andreia Ferreira, Pedro Castanheira, Teresa Barona, José S. Ramalho, Jacinta Serpa, Ana Félix, Duarte C. Barral   +11 more
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