[HTML][HTML] 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 …

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 …

SARS-CoV-2 ORF10 impairs cilia by enhancing CUL2ZYG11B activity

L Wang, C Liu, B Yang, H Zhang, J Jiao, R Zhang… - Journal of Cell …, 2022 - rupress.org
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the causal pathogen of
the ongoing global pandemic of coronavirus disease 2019 (COVID-19). Loss of smell and …

Intraflagellar transport proteins as regulators of primary cilia length

W Wang, BM Jack, HH Wang… - Frontiers in cell and …, 2021 - frontiersin.org
Primary cilia are small, antenna-like organelles that detect and transduce chemical and
mechanical cues in the extracellular environment, regulating cell behavior and, in turn …

Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome

A Lindstrand, S Frangakis, CMB Carvalho… - The American Journal of …, 2016 - cell.com
Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and
genetic heterogeneity, almost all of which has been identified through sequencing. Recent …

Haploid male germ cells—the Grand Central Station of protein transport

C Pleuger, MS Lehti, JEM Dunleavy… - Human …, 2020 - academic.oup.com
BACKGROUND The precise movement of proteins and vesicles is an essential ability for all
eukaryotic cells. Nowhere is this more evident than during the remarkable transformation …

Microtubule motors drive hedgehog signaling in primary cilia

M He, S Agbu, KV Anderson - Trends in cell biology, 2017 - cell.com
The mammalian Hedgehog (Hh) signaling pathway is required for development and for
maintenance of adult stem cells, and overactivation of the pathway can cause …

Cilia in cystic kidney and other diseases

GJ Pazour, L Quarmby, AO Smith, PB Desai… - Cellular signalling, 2020 - Elsevier
Epithelial cells lining the ducts and tubules of the kidney nephron and collecting duct have a
single non-motile cilium projecting from their surface into the lumen of the tubule. These …

Genetic renal diseases: the emerging role of zebrafish models

MA Elmonem, SP Berlingerio, LP Van den Heuvel… - Cells, 2018 - mdpi.com
The structural and functional similarity of the larval zebrafish pronephros to the human
nephron, together with the recent development of easier and more precise techniques to …

The cilium: a cellular antenna with an influence on obesity risk

ECM Mariman, RG Vink, NJT Roumans… - British Journal of …, 2016 - cambridge.org
Primary cilia are organelles that are present on many different cell types, either transiently or
permanently. They play a crucial role in receiving signals from the environment and passing …