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Primary cilia as dynamic and diverse signalling hubs in development and disease

Pleasantine Mill, Søren T. Christensen, Lotte B. Pedersen

Nature Reviews Genetics · 2023 · Review

doi:10.1038/s41576-023-00587-9

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LPA signaling acts as a cell-extrinsic mechanism to initiate cilia disassembly and promote neurogenesis · 2021
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Pugacheva EN, Jablonski SA, Hartman TR, Henske EP, Golemis EA. HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell. 2007;129:1351-1363.
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Modeling microcephaly with cerebral organoids reveals a WDR62–CEP170–KIF2A pathway promoting cilium disassembly in neural progenitors · 2019
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RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis · 2020
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Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism · 2021
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186.
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Haward F, et al. Nucleo-cytoplasmic shuttling of splicing factor SRSF1 is required for development and cilia function. Elife. 2021;10.
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203.
Combining LOPIT with differential ultracentrifugation for high-resolution spatial proteomics · 2019
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204.
Deep Visual Proteomics defines single-cell identity and heterogeneity · 2022
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205.
Qin W, Cho KF, Cavanagh PE, Ting AY. Deciphering molecular interactions by proximity labeling. Nat Methods. 2021;18:133-143.
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206.
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Truong ME, et al. Vertebrate cells differentially interpret ciliary and extraciliary cAMP. Cell. 2021;184:2911-2926.
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Hansen JN, et al. A cAMP signalosome in primary cilia drives gene expression and kidney cyst formation. EMBO Rep. 2022;23:e54315.
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A serotonergic axon-cilium synapse drives nuclear signaling to alter chromatin accessibility · 2022
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Shaheen R, et al. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019;104:731-737.
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215.
Sanders AA, et al. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015;16:293.
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216.
Epting D, et al. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Hum Mol Genet. 2022;31:2295-2306.
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217.
Grinspon RP. Genetics of congenital central hypogonadism. Best Pract Res Clin Endocrinol Metab. 2022;36:101599.
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Tanaka N, et al. Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. PLoS One. 2015;10:e0138943.
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220.
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224.
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Petriman NA, et al. Biochemically validated structural model of the 15-subunit intraflagellar transport complex IFT-B. EMBO J. 2022;e112440.
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The molecular structure of IFT-A and IFT-B in anterograde intraflagellar transport trains · 2023
No notice
237.
Near-atomic structures of the BBSome reveal the basis for BBSome activation and binding to GPCR cargoes · 2020
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238.
Structure and activation mechanism of the BBSome membrane protein trafficking complex · 2020
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239.
Structure of the human BBSome core complex · 2020
Not checked

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