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 …

[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 …

In situ architecture of the ciliary base reveals the stepwise assembly of intraflagellar transport trains

H Van den Hoek, N Klena, MA Jordan, G Alvarez Viar… - Science, 2022 - science.org
The cilium is an antenna-like organelle that performs numerous cellular functions, including
motility, sensing, and signaling. The base of the cilium contains a selective barrier that …

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 …

A dynamic protein interaction landscape of the human centrosome-cilium interface

GD Gupta, É Coyaud, J Gonçalves, BA Mojarad, Y Liu… - Cell, 2015 - cell.com
The centrosome is the primary microtubule organizing center of the cells and templates the
formation of cilia, thereby operating at a nexus of critical cellular functions. Here, we use …

IFT–cargo interactions and protein transport in cilia

KF Lechtreck - Trends in biochemical sciences, 2015 - cell.com
The motile and sensory functions of cilia and flagella are indispensable for human health.
Cilia assembly requires a dedicated protein shuttle, intraflagellar transport (IFT), a …

Mechanism and regulation of centriole and cilium biogenesis

DK Breslow, AJ Holland - Annual review of biochemistry, 2019 - annualreviews.org
The centriole is an ancient microtubule-based organelle with a conserved nine-fold
symmetry. Centrioles form the core of centrosomes, which organize the interphase …

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 …

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

JF Reiter, OE Blacque, MR Leroux - EMBO reports, 2012 - embopress.org
Both the basal body and the microtubule‐based axoneme it nucleates have evolutionarily
conserved subdomains crucial for cilium biogenesis, function and maintenance. Here, we …

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

FR Garcia-Gonzalo, KC Corbit, MS Sirerol-Piquer… - Nature …, 2011 - nature.com
Mutations affecting ciliary components cause ciliopathies. As described here, we
investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is …