PMC Links for Nucleotide (Select 1675130176) - PMC

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Items: 5

Select item 60980201.

Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules

Kai He, Xiaoyu Ma, Tao Xu, Yan Li, Allen Hodge, Qing Zhang, Julia Torline, Yan Huang, Jian Zhao, Kun Ling, Jinghua Hu

Nat Commun. 2018; 9: 3310. Published online 2018 Aug 17. doi: 10.1038/s41467-018-05867-1

PMCID:: PMC6098020

Abstract Article PDF–6.7M

Select item 59925852.

The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane

Ekaterina Revenkova, Qing Liu, G. Luca Gusella, Carlo Iomini

J Cell Sci. 2018 May 1; 131(9): jcs212324. Published online 2018 May 4. doi: 10.1242/jcs.212324

PMCID:: PMC5992585

Abstract Article

Select item 58161363.

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

Sarah N. Bay, Alyssa B. Long, Tamara Caspary

Proc Natl Acad Sci U S A. 2018 Feb 13; 115(7): 1570–1575. Published online 2018 Jan 29. doi: 10.1073/pnas.1706977115

PMCID:: PMC5816136

Abstract Article PDF–1.2M

Select item 24950724.

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

Vincent Cantagrel, Jennifer L. Silhavy, Stephanie L. Bielas, Dominika Swistun, Sarah E. Marsh, Julien Y. Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R. Holden, William B. Dobyns, David Traver, Lihadh Al-Gazali, Bassam R. Ali, Tom H. Lindner, Tamara Caspary, Edgar A. Otto, Friedhelm Hildebrandt, Ian A. Glass, Clare V. Logan, Colin A. Johnson, Christopher Bennett, Francesco Brancati, The International Joubert Syndrome Related Disorders (JSRD) Study Group, Enza Maria Valente, C. Geoffrey Woods, Joseph G. Gleeson

Am J Hum Genet. 2008 Aug 8; 83(2): 170–179. Published online 2008 Aug 1. doi: 10.1016/j.ajhg.2008.06.023