Genetic and Kidney Cyst Diseases

This study shows that astrocyte cilia regulate Sonic Hedgehog signaling during astrocyte development, affecting proliferation and morphology.

The paper shows that KMT5B promotes cilia tuft formation independently of chromatin accessibility changes at ciliary genes.

This study shows RPGR variants impair motile cilia in airway multiciliated cells by causing apical F-actin accumulation, leading to reduced ciliation, shorter cilia, and impaired cilia beat.

This study uses a kidney-on-chip model to decouple shear stress and pressure effects on tubule dilation in Pkd1-/- cells, revealing distinct mechanisms in different kidney cell types.

The paper uses cell-free assays to show PACRG and FAP20 synergistically stabilize microtubule doublets by reducing B-tubule depolymerization and increasing rescue frequency.

This study identifies the collaborative role of IFT and KIF7 in regulating GLI2 transport within cilia to control Hedgehog signaling.

This study investigates the role of DYF-5 in regulating intraflagellar transport (IFT) dynamics in C. elegans cilia, showing it is essential for IFT train turnaround at the ciliary tip.

The paper identifies phosphorylation sites on axonemal dynein heavy chains across multiple ciliated eukaryotes, revealing kinase-specific patterns and cilium-specific modifications.

This study determines the high-resolution structure of the ciliary glycocalyx in Chlamydomonas reinhardtii and identifies FMG1B as a mucin-like protein with unique glycosylation features.

This study identifies the TRiC/CCT-BBS chaperonin co-complex as essential for ADGRV1 localization to primary cilia and shows its role in ciliogenesis and disease.

This study identifies TBC1D19 and KIAA1841 as essential subunits of the TPGC complex, showing their role in ciliary poly-glutamylation and phosphatidyl inositol homeostasis.

The paper measures torsion and twist in axonemes of Chlamydomonas reinhardtii, finding co-rotation between cross-section and bending plane, indicating twist-torsion coupling.

The paper uses cryo-electron tomography to reveal the structure of cilium inner junctions and shows how protein distribution affects structural stability and assembly.

This study shows that CFAP77 is essential for connecting axonemal A and B tubules in mammalian sperm, as its loss disrupts the CFAP77-CCDC105-TEX43 complex and impairs sperm motility.

This study identifies RAB23-GDP as a RAB18-specific guanine nucleotide exchange factor that facilitates inward BBSome transition zone passage for ciliary signaling.

The paper describes a scalable method to generate cystic ureteric bud organoids from PKD2-deficient hPSCs for ADPKD drug discovery, identifying a nutrient conjugate that reduces cyst formation.

This paper identifies RAB18 as a key regulator of BBSome diffusion through the transition zone for ciliary entry, revealing its role in maintaining signaling protein homeostasis in cilia.

The paper identifies cellular defects beyond motility loss in ciliopathies caused by CCDC39/CCDC40 variants, showing proteostasis disruption and cell fate switching.

This study shows that tubulin tyrosination/detyrosination governs the spatial segregation of IFT trains on ciliary microtubules, preventing traffic jams.

The paper investigates the interactions of ciliary tip proteins and their role in microtubule dynamics, finding that they form structures that slow and processively elongate microtubules.

This study shows that Tau regulates Rho1-mediated cytoskeletal dynamics in Drosophila Malpighian tubules, affecting tubule structure and function, with parallels to mammalian kidney disease.

This study shows that HYLS1 mutations cause centriole structural defects leading to ciliary dysfunction and developmental issues in mice, mirroring human Hydrolethalus Syndrome.

This study shows that multicilia in the choroid plexus transduce non-canonical Shh signaling to regulate CSF production by repressing Aqp1 and Atp1a2 expression.

This study identifies the mechanochemical Piezo1-Erk1/2-Yap1 pathway in multiciliated cells that regulates centriole amplification through tension-dependent activation of Foxj1.

This study investigates the role of CEP290 in photoreceptor ciliary structure and outer segment formation in mice, finding defects in ciliary necklace and Y-links, and altered distribution of transition zone proteins.

The paper identifies a novel non-motile dynein heavy chain subfamily, DNAHX, using cryo-EM and shows its evolutionary origin and structural features.

This study evaluates prostaglandin receptor agonists and eupatilin for their ability to rescue ciliogenesis defects and reduce cyst size in nephronophthisis models.

This study identifies potent PKD2L1 antagonists through high-throughput electrophysiology and computational analysis, revealing a novel binding site and inhibition mechanism.

This paper identifies a membrane topology problem in ciliogenesis and shows that the phospholipid flippase ALA2 resolves it by flipping phosphatidyl ethanolamine to establish ciliary membrane curvature.

This study shows that both excessive and insufficient Wnt signaling disrupt ciliogenesis in human retinal epithelial cells, highlighting the interplay between Wnt and mTOR signaling.