The intraflagellar transport machinery

M Taschner, E Lorentzen - Cold Spring Harbor …, 2016 - cshperspectives.cshlp.org
Eukaryotic cilia and flagella are evolutionarily conserved organelles that protrude from the
cell surface. The unique location and properties of cilia allow them to function in vital …

[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 …

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 …

Trafficking of ciliary membrane proteins by the intraflagellar transport/BBSome machinery

JL Wingfield, KF Lechtreck… - Essays in biochemistry, 2018 - portlandpress.com
Bardet–Biedl syndrome (BBS) is a rare inherited disease caused by defects in the BBSome,
an octameric complex of BBS proteins. The BBSome is conserved in most organisms with …

Ins and outs of GPCR signaling in primary cilia

KB Schou, LB Pedersen, ST Christensen - EMBO reports, 2015 - embopress.org
Primary cilia are specialized microtubule‐based signaling organelles that convey
extracellular signals into a cellular response in most vertebrate cell types. The physiological …

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 …

Bardet-Biedl syndrome: current perspectives and clinical outlook

A Melluso, F Secondulfo, G Capolongo… - … and Clinical Risk …, 2023 - Taylor & Francis
Abstract The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of
non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly …

Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

V Niederlova, M Modrak, O Tsyklauri… - Human …, 2019 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …

Structure and activation mechanism of the BBSome membrane protein trafficking complex

SK Singh, M Gui, F Koh, MCJ Yip, A Brown - elife, 2020 - elifesciences.org
Bardet-Biedl syndrome (BBS) is a currently incurable ciliopathy caused by the failure to
correctly establish or maintain cilia-dependent signaling pathways. Eight proteins …

Structure of the human BBSome core complex

BU Klink, C Gatsogiannis, O Hofnagel, A Wittinghofer… - Elife, 2020 - elifesciences.org
The BBSome is a heterooctameric protein complex that plays a central role in primary cilia
homeostasis. Its malfunction causes the severe ciliopathy Bardet-Biedl syndrome (BBS). The …