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 …

Emerging mechanistic understanding of cilia function in cellular signalling

KI Hilgendorf, BR Myers, JF Reiter - Nature Reviews Molecular Cell …, 2024 - nature.com
Primary cilia are solitary, immotile sensory organelles present on most cells in the body that
participate broadly in human health, physiology and disease. Cilia generate a unique …

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 …

An actin network dispatches ciliary GPCRs into extracellular vesicles to modulate signaling

AR Nager, JS Goldstein, V Herranz-Pérez, D Portran… - Cell, 2017 - cell.com
Signaling receptors dynamically exit cilia upon activation of signaling pathways such as
Hedgehog. Here, we find that when activated G protein-coupled receptors (GPCRs) fail to …

Dynamic remodeling of membrane composition drives cell cycle through primary cilia excision

SC Phua, S Chiba, M Suzuki, E Su, EC Roberson… - Cell, 2017 - cell.com
The life cycle of a primary cilium begins in quiescence and ends prior to mitosis. In quiescent
cells, the primary cilium insulates itself from contiguous dynamic membrane processes on …

The axon initial segment: an updated viewpoint

C Leterrier - Journal of Neuroscience, 2018 - Soc Neuroscience
At the base of axons sits a unique compartment called the axon initial segment (AIS). The
AIS generates and shapes the action potential before it is propagated along the axon …

Cholesterol access in cellular membranes controls Hedgehog signaling

A Radhakrishnan, R Rohatgi, C Siebold - Nature chemical biology, 2020 - nature.com
Abstract The Hedgehog (Hh) signaling pathway coordinates cell–cell communication in
development and regeneration. Defects in this pathway underlie diseases ranging from birth …

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 …

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 …