... that the role of SMPD4 in producing ceramide is important for making primary cilia, a crucial organelle mediating cellular signaling. We found that the mouse model has cerebellar hypoplasia due to failure of Purkinje cell development. Human induced pluripotent stem cells lacking SMPD4 exhibit neural progenitor...

... . 10.1016/j.ydbio.2008.12.016 Mill , P. , Christensen , S. T. and Pedersen , L. B. ( 2023 ). Primary cilia as dynamic and diverse signalling hubs in development and disease . Nat. Rev. Genet. 24 , 421 - 441 . 10.1038/s41576-023-00587-9 Mukhopadhyay , S. , Wen , X...

... . During zebrafish definitive hematopoiesis, BF170 hydrochloride increases blood flow, expands hemogenic endothelium (HE) cells and promotes HSPC emergence. Mechanistically, the primary cilia-Ca 2+ -Notch/NO signaling pathway, which is downstream of the blood flow, mediated the effects of BF170...

...Kelsey H. Elliott; Sai K. Balchand; Christian Louis Bonatto Paese; Ching-Fang Chang; Yanfen Yang; Kari M. Brown; Daniel T. Rasicci; Hao He; Konrad Thorner; Praneet Chaturvedi; Stephen A. Murray; Jing Chen; Aleksey Porollo; Kevin A. Peterson; Samantha A. Brugmann ABSTRACT Primary cilia are nearly...

... that neuronal primary cilia, known as ‘signaling antennas’, play crucial roles in the formation and maturation of neurons ( Youn and Han, 2018 ; Han et al., 2008 ) and the regulation of the early patterning of another neuronal tissue, the neural tube ( Caspary et al., 2007 ). Within the OE, primary cilia...

... manner, as well as defects in primary cilia. Furthermore, loss of PAR3 enhanced ligand-independent ciliary accumulation of smoothened and an inhibitor of smoothened ameliorated the hyperproliferation of NPCs in the telencephalon. Thus, these findings support the idea that PAR3 has a crucial role...

...Christian Louis Bonatto Paese; Evan C. Brooks; Megan Aarnio-Peterson; Samantha A. Brugmann ABSTRACT Ciliopathies represent a growing class of diseases caused by defects in microtubule-based organelles called primary cilia. Approximately 30% of ciliopathies are characterized by craniofacial...

... the molecular factors involved in cilium formation and removal, the relevance of these processes to development and how recent findings are highlighting new possibilities for therapeutic intervention in disease. Primary cilia Ciliopathies Cilium assembly Cilium disassembly Cancer U.S...

... understood. The orphan G protein-coupled receptor Gpr161 localizes to primary cilia and functions as a negative regulator of Shh signaling by promoting Gli transcriptional repressor versus activator formation. Here, we show that forelimb buds are not formed in Gpr161 knockout mouse embryos despite...

...Laura Grisanti; Ekaterina Revenkova; Ronald E. Gordon; Carlo Iomini Primary cilia have been linked to signaling pathways involved in cell proliferation, cell motility and cell polarity. Defects in ciliary function result in developmental abnormalities and multiple ciliopathies. Patients affected...

... birth owing to organogenesis defects as in ciliopathies. Shh signaling is impaired in null embryos and primary cilia are reduced in multiple tissues. We show that CP110 is required for anchoring of basal bodies to the membrane during cilia formation. CP110 loss resulted in an abnormal distribution...

... ) in the endocardium to promote trabeculation and that forced Notch activation in the absence of cardiac contraction rescues efnb2a and nrg1 expression. Using in vitro and in vivo systems, we showed that primary cilia are important mediators of fluid flow to stimulate Notch expression. Together, our findings describe...

.... Although phenotypically similar to talpid 3 , talpid 2 has a distinct facial phenotype and an unknown cellular, molecular and genetic basis. We set out to determine the etiology of the craniofacial phenotype of this mutant. We confirmed that primary cilia were disrupted in talpid 2 mutants. Molecularly, we...

... regions, depending on hedgehog (Hh) signalling, and exhibits embryonic lethality. The talpid 3 chicken has a mutation in KIAA0586 , which encodes a centrosomal protein required for the formation of primary cilia, which are sites of vertebrate Hh signalling. The highly conserved exons 11 and 12 of KIAA0586...

.... the neural tube), has a mutation in KIAA0568 . Similar phenotypes are seen in mice and in human syndromes with mutations in genes that encode centrosomal or intraflagella transport proteins. Such mutations lead to defects in primary cilia, sites where Hh signalling occurs. Here, we show that cells of talpid...

...Eiki Koyama; Blanche Young; Motohiko Nagayama; Yoshihiro Shibukawa; Motomi Enomoto-Iwamoto; Masahiro Iwamoto; Yukiko Maeda; Beate Lanske; Buer Song; Rosa Serra; Maurizio Pacifici The motor protein Kif3a and primary cilia regulate important developmental processes, but their roles in skeletogenesis...