Genetic and Kidney Cyst Diseases

This study shows endosulfan, a pesticide, suppresses hedgehog signaling by activating GSK3β and repressing GLI-regulated genes, mimicking genetic ciliopathies.

This study investigates mechanosensory responses in tintinnid ciliates, revealing a novel form of cilia-associated habituation to mechanical stimuli.

This study shows that sensory neuron cilia in adult C. elegans can regenerate after injury, involving both cell-intrinsic and glial pathways distinct from developmental ciliogenesis.

The paper identifies a complex that establishes centriole rotational asymmetry, essential for positioning centrioles at the base of primary cilia.

This study investigates how KRAS regulates de- and re-ciliation in muscle stem- and progenitor cells through interactions with CEP55, Aurora kinase A, and the PDE6D trafficking pathway.

The paper investigates the role of IFT-A in anterograde intraflagellar transport in Trypanosoma brucei, finding that IFT140 is essential for train assembly.

This study investigates how a PKD2 mutation causes primary cilia degeneration and ADPKD by analyzing its structural and functional impact in vitro and in vivo.

The paper uses single-nucleus transcriptomics to study precystic kidney dysfunction in PKD, identifying a signaling pathway and gene (Creb5) involved in early cystogenesis.

This study shows that Trisomy 21 reduces ciliary SMO and increases GPR161 in SHH signaling, but extended ciliary maturation normalizes these levels between T21 and D21 cells.

The paper reports the structure of the mammalian ciliary transition zone microtubule doublet using cryo-electron tomography, revealing unique proteins and their roles in microtubule stabilization and transport regulation.

This study tests DFMO, an FDA-approved drug, in a mouse model of ADPKD and finds it reduces kidney cyst growth and improves kidney health.

The paper develops a method to image and analyze cilia-driven transport in mammalian tissues using light-field microscopy and flow reconstruction, revealing conserved flow structures across different tissues.

This study investigates cilia orientation and centriole positioning in growing limbs, finding that cilia orientation is preferentially organized and independent of centriole position or mechanical loading.

This study shows ROCK2 regulates endothelial cilia, which is critical for blood vessel lumen formation and vascular integrity.

This study generates two mouse models of nephronophthisis by inactivating Nphp3 at different developmental stages, revealing distinct disease mechanisms and treatment responses.

This study examines how hypomorphic IFT and dynein-2 mutations affect chondrogenic differentiation, ECM composition, and Wnt signaling in ATDC5 organoids, revealing genotype-dependent changes in signaling pathways and ECM.

This study identifies subunit-specific interactions in kinesin-2 that mediate autoinhibition, essential for ciliogenesis and motor function.

The paper shows that actin cross-linking regulates basal body patterning through transitions from diffusive to confined motion in Xenopus embryos.

This study shows that CILK1 accumulates in an inactive form during ADPKD progression in human and mouse models.

The paper identifies three epithelial cyst types in ADPKD using single-nucleus RNA sequencing and machine learning, showing their association with therapeutic response.

The paper shows primary cilia use localized glycolysis and mitochondrial PEP to generate ATP, and can access ATP from the cell body when glucose is limited.

This study shows that Katnip deletion in mice causes hydrocephalus by increasing ciliogenesis and reducing neuroprogenitor cell proliferation.

This study uses human stem cell models to investigate IFT140 variants causing retinal dystrophy and identifies eupatilin as a potential therapeutic for cilia defects.

The paper shows primary cilia on kidney tubular cells initiate a fibro-inflammatory program in response to bacterial components, linking pathogen detection to kidney disease progression.

This study uses super-resolution imaging to show that IFT complexes in C. elegans cilia dynamically dissociate with age, leading to reduced IFT velocity and ciliary dysfunction.

This study shows Gal-8 regulates primary cilium structure and leptin signaling in hypothalamic neurons via L-type calcium channels and the Aurora kinase A/HDAC6 pathway, affecting energy balance and glucose homeostasis.

This paper uses a C. elegans model to functionally classify an ADPKD variant, showing it acts recessively by disrupting polycystin complex function.

This study shows that β-tubulin isotype TBB-4 in C. elegans cilia uses IFT and diffusion to maintain axoneme integrity, with IFT being critical for steady-state length maintenance.

Cilia SubQ provides automated pipelines for analyzing primary cilia and subdomains, reducing analysis time and improving reproducibility.