Establishing and regulating the composition of cilia for signal transduction

MV Nachury, DU Mick - Nature reviews Molecular cell biology, 2019 - nature.com
The primary cilium is a hair-like surface-exposed organelle of the eukaryotic cell that
decodes a variety of signals—such as odorants, light and Hedgehog morphogens—by …

[HTML][HTML] Non-syndromic retinitis pigmentosa

SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …

Cilium structure, assembly, and disassembly regulated by the cytoskeleton

M Mirvis, T Stearns, W James Nelson - Biochemical Journal, 2018 - portlandpress.com
The cilium, once considered a vestigial structure, is a conserved, microtubule-based
organelle critical for transducing extracellular chemical and mechanical signals that control …

BBSome trains remove activated GPCRs from cilia by enabling passage through the transition zone

F Ye, AR Nager, MV Nachury - Journal of Cell Biology, 2018 - rupress.org
A diffusion barrier at the transition zone enables the compartmentalization of signaling
molecules by cilia. The BBSome and the small guanosine triphosphatase Arl6, which …

[HTML][HTML] Vertebrate cells differentially interpret ciliary and extraciliary cAMP

ME Truong, S Bilekova, SP Choksi, W Li, LJ Bugaj… - Cell, 2021 - cell.com
Hedgehog pathway components and select G protein-coupled receptors (GPCRs) localize
to the primary cilium, an organelle specialized for signal transduction. We investigated …

Cilia, ciliopathies and hedgehog-related forebrain developmental disorders

A Andreu-Cervera, M Catala… - Neurobiology of …, 2021 - Elsevier
Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

[HTML][HTML] Ciliogenesis membrane dynamics and organization

H Zhao, Z Khan, CJ Westlake - Seminars in cell & developmental biology, 2023 - Elsevier
Ciliogenesis is a complex multistep process used to describe assembly of cilia and flagella.
These organelles play essential roles in motility and signaling on the surface of cells. Cilia …

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

MA Parisi - Translational science of rare diseases, 2019 - content.iospress.com
Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …

Time-resolved proteomics profiling of the ciliary Hedgehog response

EA May, M Kalocsay, IG D'auriac, PS Schuster… - Journal of Cell …, 2021 - rupress.org
The primary cilium is a signaling compartment that interprets Hedgehog signals through
changes of its protein, lipid, and second messenger compositions. Here, we combine …

Composition, organization and mechanisms of the transition zone, a gate for the cilium

K Park, MR Leroux - EMBO reports, 2022 - embopress.org
The cilium evolved to provide the ancestral eukaryote with the ability to move and sense its
environment. Acquiring these functions required the compartmentalization of a dynein …