Genes and molecular pathways underpinning ciliopathies

JF Reiter, MR Leroux - Nature reviews Molecular cell biology, 2017 - nature.com
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

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] Ciliopathies and the kidney: a review

DJ McConnachie, JL Stow, AJ Mallett - American Journal of Kidney …, 2021 - Elsevier
Primary cilia are specialized sensory organelles that protrude from the apical surface of most
cell types. Over the past two decades, they have been found to play important roles in tissue …

Open sesame: how transition fibers and the transition zone control ciliary composition

FR Garcia-Gonzalo, JF Reiter - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …

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] The ciliary transition zone: finding the pieces and assembling the gate

J Gonçalves, L Pelletier - Molecules and cells, 2017 - Elsevier
Eukaryotic cilia are organelles that project from the surface of cells to fulfill motility and
sensory functions. In vertebrates, the functions of both motile and immotile cilia are critical for …

The molecular machines that traffic signaling receptors into and out of cilia

MV Nachury - Current opinion in cell biology, 2018 - Elsevier
Cilia are surface-exposed organelles that dynamically concentrate signaling molecules to
organize sensory, developmental and homeostatic pathways. Entry and exit of signaling …

A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies

DK Breslow, S Hoogendoorn, AR Kopp, DW Morgens… - Nature …, 2018 - nature.com
Primary cilia organize Hedgehog signaling and shape embryonic development, and their
dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic …

How the ciliary membrane is organized inside-out to communicate outside-in

G Garcia, DR Raleigh, JF Reiter - Current Biology, 2018 - cell.com
Cilia, organelles that move to execute functions like fertilization and signal to execute
functions like photoreception and embryonic patterning, are composed of a core of nine-fold …

The Joubert–Meckel–nephronophthisis spectrum of ciliopathies

JC Van De Weghe, A Gomez… - Annual Review of …, 2022 - annualreviews.org
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …