Primary cilia and mammalian hedgehog signaling
F Bangs, KV Anderson - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …
Ciliopathies
DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms
Despite the increasing diagnostic rate of genomic sequencing, the genetic basis of more
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …
than 50% of heritable kidney disease remains unresolved. Kidney organoids differentiated …
Human IFT-A complex structures provide molecular insights into ciliary transport
M Jiang, VR Palicharla, D Miller, SH Hwang, H Zhu… - Cell Research, 2023 - nature.com
Intraflagellar transport (IFT) complexes, IFT-A and IFT-B, form bidirectional trains that move
along the axonemal microtubules and are essential for assembling and maintaining cilia …
along the axonemal microtubules and are essential for assembling and maintaining cilia …
Mechanism of IFT-A polymerization into trains for ciliary transport
Intraflagellar transport (IFT) is the highly conserved process by which proteins are
transported along ciliary microtubules by a train-like polymeric assembly of IFT-A and IFT-B …
transported along ciliary microtubules by a train-like polymeric assembly of IFT-A and IFT-B …
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
Photoreceptor cilia and retinal ciliopathies
KM Bujakowska, Q Liu… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …
responses. This process, called phototransduction, takes place in the outer segments (OS) …
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
J Halbritter, AA Bizet, M Schmidts, JD Porath… - The American Journal of …, 2013 - cell.com
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules,
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT …
subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT …
Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex
CL McCafferty, O Papoulas, MA Jordan… - Elife, 2022 - elifesciences.org
Intraflagellar transport (IFT) is a conserved process of cargo transport in cilia that is essential
for development and homeostasis in organisms ranging from algae to vertebrates. In …
for development and homeostasis in organisms ranging from algae to vertebrates. In …