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 …

Switching on cilia: transcriptional networks regulating ciliogenesis

SP Choksi, G Lauter, P Swoboda, S Roy - Development, 2014 - journals.biologists.com
Cilia play many essential roles in fluid transport and cellular locomotion, and as sensory
hubs for a variety of signal transduction pathways. Despite having a conserved basic …

[HTML][HTML] Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer… - Cell, 2011 - cell.com
Summary Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

CL Williams, C Li, K Kida, PN Inglis, S Mohan… - Journal of Cell …, 2011 - rupress.org
Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies present
with overlapping phenotypes and display considerable allelism between at least twelve …

Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis

KN Schmidt, S Kuhns, A Neuner, B Hub… - Journal of Cell …, 2012 - rupress.org
Cilia formation is a multi-step process that starts with the docking of a vesicle at the distal
part of the mother centriole. This step marks the conversion of the mother centriole into the …

Nephronophthisis

F Hildebrandt - Genetic Diseases of the Kidney, 2009 - Elsevier
Publisher Summary Nephronophthisis (NPHP) is an autosomal recessive cystic kidney
disease that represents the most frequent monogenic cause of end-stage renal disease …

Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access

FR Garcia-Gonzalo, JF Reiter - Journal of Cell Biology, 2012 - rupress.org
Cilia are conserved, microtubule-based cell surface projections that emanate from basal
bodies, membrane-docked centrioles. The beating of motile cilia and flagella enables cells …

Nephronophthisis-associated ciliopathies

F Hildebrandt, W Zhou - Journal of the American society of …, 2007 - journals.lww.com
Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, represents the
most frequent genetic cause of end-stage kidney disease in the first three decades of life …

Primary cilia and signaling pathways in mammalian development, health and disease

IR Veland, A Awan, LB Pedersen, BK Yoder… - Nephron …, 2009 - karger.com
Although first described as early as 1898 and long considered a vestigial organelle of little
functional importance, the primary cilium has become one of the hottest research topics in …

The roles of cilia in developmental disorders and disease

BW Bisgrove, HJ Yost - 2006 - journals.biologists.com
Cilia are highly conserved organelles that have diverse motility and sensory functions.
Recent discoveries have revealed that cilia also have crucial roles in cell signaling …