Genetic and Kidney Cyst Diseases

This study identifies ciliary trafficking mechanisms and functions of RIC-8 in C. elegans and mammalian cilia, showing its role in chemosensory responses and ciliogenesis.

This study identifies key membrane structures and proteins involved in primary ciliogenesis using isotropic ultrastructure imaging and 3D analysis.

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 shows that short-chain tubulin glutamylation, regulated by CCP5, can restore ciliary motility in a long-chain polyglutamylation-deficient mutant.

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.

The paper uses in situ proteomics to show neuronal cilia have specialized nanodomains for extrasynaptic signaling, enriched in synaptic proteins and neurotransmitter receptors.

The paper identifies the proteomic composition and functional interdependence of the vertebrate C2a projection, showing that loss of any of three proteins causes ciliary dysfunction and primary ciliary dyskinesia in mice.

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.

The paper investigates how ASD mutations in CEP41 affect cortical neuron development in human organoids, finding altered cilia stability and changes in interneuron and projection neuron differentiation.

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 identifies new ciliary proteins in the developing brain using proteomics and validates their roles in cortical development.

This study identifies a Cfap300-Hnf1ba-Cdh17 pathway that regulates epithelial-to-endocrine transdifferentiation in zebrafish Corpuscle of Stannius development.

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 shows that Chattonella marina adjusts its flagellar length and beat frequency during day and night, affecting swimming speed, likely as an energy-saving strategy linked to diurnal vertical migration.

The paper uses expansion microscopy to map the 3D microtubule organization in human airway multiciliated cells, revealing the role of NEDD1 in basal foot-dependent microtubule organization.

The paper creates a high-resolution spatial map of cilia-associated proteins in the human fallopian tube using integrated transcriptomics and proteomics.

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.