Today is the global Rare Disease Day 2026 and we together with colleagues from @imgprague.bsky.social want to raise awareness of research on rare diseases #ciliopathy #BardetBiedlSyndrome

a woman in a long black dress is walking down a foggy street . ALT: a woman in a long black dress is walking down a foggy street .

The once-in-a-lifetime comedic queen Catherine O'Hara had situs inversus

#cilia #ciliopathy

www.usatoday.com/story/entert...

🧪Thurs (Poster 5047T) - Ekta Singh shows how different nutritional states reshape primary #cilia, altering how cells sense and respond to external cues. Her thesis work will have important implications both for rare #ciliopathy patients and for common complex disease!

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia - European Journal of Human Genetics European Journal of Human Genetics - A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

📢 Cranioectodermal Dysplasia (skeletal, ectodermal, renal & liver defects) is now linked to a non-IFT gene, CILK1. 🧬
#Genetics #CED #Ciliopathy #EJHG

➡️ www.nature.com/articles/s41...

📣New from Rushforth et al!
📄Biallelic INTU variants define a #ciliopathy disorder characterized by orofacial, digital and cardiac anomalies
👉https://bit.ly/3Kab6T1

Model for cellular functions and mechanisms of CCDC66. CCDC66 is a microtubule-stabilizing protein that maintains cilium integrity and size and facilitates vesicular transport at the ciliary base. Depletion of CCDC66 results in variations in cilia size due to compromised axonemal integrity, intraflagellar transport, and increased ectocytosis events involving the release of vesicles and fragments. CCDC66 may also support ciliary ectocytosis and length stability by regulating the actin cytoskeleton. Furthermore, disruptions in both microtubule stability and the actin cytoskeleton impair RAB11 and RAB5-mediated endocytosis and membrane recycling, affecting cell adhesion and the targeting of ciliary receptors. This disruption subsequently activates protein degradation pathways through RAB7-regulated late endocytosis, potentially involving RAB7 translocation to cilia to support ectocytosis. Collectively, these defects in protein transport, cilia function, and cell contacts contribute to compromised epithelial tissue integrity and multilumen formation in kidney tubules.

The #PrimaryCilium dynamically assembles & disassembles, but how is this controlled? @cytolabkoc.bsky.social shows that #ciliopathy linked protein Ccdc66 regulates both #cilium stability & length in epithelial cells via microtubules, actin & vesicular trafficking @plosbiology.org 🧪 plos.io/4mdTS4A

Model for cellular functions and mechanisms of CCDC66. CCDC66 is a microtubule-stabilizing protein that maintains cilium integrity and size and facilitates vesicular transport at the ciliary base. Depletion of CCDC66 results in variations in cilia size due to compromised axonemal integrity, intraflagellar transport, and increased ectocytosis events involving the release of vesicles and fragments. CCDC66 may also support ciliary ectocytosis and length stability by regulating the actin cytoskeleton. Furthermore, disruptions in both microtubule stability and the actin cytoskeleton impair RAB11 and RAB5-mediated endocytosis and membrane recycling, affecting cell adhesion and the targeting of ciliary receptors. This disruption subsequently activates protein degradation pathways through RAB7-regulated late endocytosis, potentially involving RAB7 translocation to cilia to support ectocytosis. Collectively, these defects in protein transport, cilia function, and cell contacts contribute to compromised epithelial tissue integrity and multilumen formation in kidney tubules.

The #PrimaryCilium dynamically assembles & disassembles, but how is this controlled? @cytolabkoc.bsky.social shows that #ciliopathy linked protein Ccdc66 regulates both #cilium stability & length in epithelial cells via microtubules, actin & vesicular trafficking @plosbiology.org 🧪 plos.io/4mdTS4A

Model for cellular functions and mechanisms of CCDC66. CCDC66 is a microtubule-stabilizing protein that maintains cilium integrity and size and facilitates vesicular transport at the ciliary base. Depletion of CCDC66 results in variations in cilia size due to compromised axonemal integrity, intraflagellar transport, and increased ectocytosis events involving the release of vesicles and fragments. CCDC66 may also support ciliary ectocytosis and length stability by regulating the actin cytoskeleton. Furthermore, disruptions in both microtubule stability and the actin cytoskeleton impair RAB11 and RAB5-mediated endocytosis and membrane recycling, affecting cell adhesion and the targeting of ciliary receptors. This disruption subsequently activates protein degradation pathways through RAB7-regulated late endocytosis, potentially involving RAB7 translocation to cilia to support ectocytosis. Collectively, these defects in protein transport, cilia function, and cell contacts contribute to compromised epithelial tissue integrity and multilumen formation in kidney tubules.

The #PrimaryCilium dynamically assembles & disassembles, but how is this controlled? @cytolabkoc.bsky.social shows that #ciliopathy linked protein Ccdc66 regulates both #cilium stability & length in epithelial cells via microtubules, actin & vesicular trafficking @plosbiology.org 🧪 plos.io/4mdTS4A

Detail from the graphical abstract: mouse with deletion of the gene Glis2, Glis2 interaction network and the link to DNA damage. Generated with biorender.com.

Fresh online: our paper on Glis2 - project started years ago, and it’s finally out! Congratulations and a big thank you to Lena, Gisela, and the whole team!
tinyurl.com/Glis2

#Cilia #nephrology #ciliopathy
#DDR #nephrolab @ajpseditor.bsky.social @uniklinikkoeln.bsky.social @cecad.bsky.social

A conserved mechanism for the retrieval of polyubiquitinated proteins from cilia The temporospatial distribution of proteins within cilia is regulated by intraflagellar transport (IFT), wherein molecular trains shuttle between the cell body and cilium. Defects in this process impair various signal-transduction pathways and cause ciliopathies. Although K63-linked ubiquitination appears to trigger protein export from cilia, the mechanisms coupling polyubiquitinated proteins to IFT remain unclear. Using a multidisciplinary approach, we demonstrate that a complex of CFAP36, a conserved ciliary protein of previously unknown function, and ARL3, a GTPase involved in ciliary import, binds polyubiquitinated proteins and links them to retrograde IFT trains. CFAP36 uses a coincidence detection mechanism to simultaneously bind two IFT subunits accessible only in retrograde trains. Depleting CFAP36 accumulates K63-linked ubiquitin in cilia and disrupts Hedgehog signaling, a pathway reliant on the retrieval of ubiquitinated receptors. These findings advance our understanding of ubiquitin-mediated protein transport and ciliary homeostasis, and demonstrate how structural changes in IFT trains achieve cargo selectivity. ### Competing Interest Statement The authors have declared no competing interest. Sara Elizabeth O'Brien Trust Postdoctoral Fellowship awarded through the Charles A. King Trust Postdoctoral Research Fellowship Program, , 8460873-01 Richard and Susan Smith Family Foundation, https://ror.org/05j95n956, National Institute of General Medical Sciences (NIGMS), , R01GM141109, R01GM143183

How do cells keep their cilia “clean” and functional? Our new study uncovers a conserved mechanism for retrieving polyubiquitinated proteins from #cilia – a process essential for cellular signaling and health. #cellbiology #ciliopathy #ubiquitin #IFT 🧵👇 1/n

More on #cilia, #flagella & #fertility with Alyssa Long (@tamaragenes.bsky.social lab, Emory, US) on dissecting cilial vs non-cilial functions for ARL13B in rescuing #mouse mutant #ciliopathy phenotypes in vivo- great questions & discussions live! ICYMI: doi.org/10.1101/2025... #UKCilia2025 4/7

HLS, an autosomal recessive #ciliopathy, is associated with a mutation in the centriole protein HYLS1. Curinha, Holland et al. show that HYLS1 mutant mice exhibit developmental abnormalities, with #centriole integrity & #cilia assembly defects https://buff.ly/3XlIry1

Acknowledgement slide for Elina Kostyanovskaya from Willsey lab on her team, collaborators, patients and patient groups and funders.

Power of #HumanGenetics- is #autism a #ciliopathy? @elinakosty.bsky.social (goodfrognosis.bsky.social) makes a compelling case for unexpected synaptic & chromatin disease genes at #cilia, both #primary & #motile-"cilia are beautiful in #Xenopus". ICYMI: doi.org/10.1101/2024... #ukcilia2025 /3

Join us next Tuesday 20th Aug for the 48th BSCB GenSoc UK Cilia Network e-symposium. Details in link: lnkd.in/eEmsaZ9R
#Cilia #Centrosome #CellBiology #Ciliopathy

Announcing the Passing of Tess Harris: A Tribute to Her Enduring Legacy in the Fight Against PKD Polycystic Kidney Disease Charity supports everyone in the UK affected by polycystic kidney disease (PKD), raises awareness and funds research.

PKD Charity UK has just announced the passing of their beloved CEO, Tess Harris @agamemnon.bsky.social, peacefully on March 1, 2024. A tireless advocate for #PKD, her visionary leadership and dedication will forever inspire. #ciliopathy #heartbroken #KidneyHero
pkdcharity.org.uk/news-events/...

Welcome to Bluesky to the amazing Tess Harris agamemnon.bsky.social rallyier of #PatientVoices, champion of #RareDisease, and force of nature behind PKD UK and more... so glad you are here! #ciliopathy #PKD #cilia