Genetic and Kidney Cyst Diseases

Unwrapping the ciliary coat: high-resolution structure and function of the ciliary glycocalyx

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.

The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to primary cilia

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.

The tubulin poly-glutamylase complex, TPGC, is required for phosphatidyl inositol homeostasis and cilium assembly and maintenance

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 Structure of Cilium Inner Junctions Revealed by Electron Cryo-tomography

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

Essential role of CFAP77-CCDC105-TEX43 subcomplex in connecting axonemal A and B tubules for mammalian sperm motility

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.

RAB23 Modulates Signaling Protein Ciliary Homeostasis through Promoting RAB18-mediated Inward BBSome Transition Zone Passage

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

High efficiency organoid-derived cyst cultures as a drug discovery platform for polycystic kidney disease

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.

RAB18 Orchestrates Signaling Protein Ciliary Homeostasis by Facilitating BBSome Diffusion through the Transition Zone for Ciliary Entry

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.

Tubulin tyrosination/detyrosination governs the spatial segregation of intraflagellar transport trains on axonemal microtubule doublets

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

Tau mediated regulation of Rho1- cytoskeletal dynamics in shaping renal tubule development in Drosophila

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.

Multicilia dynamically transduce Shh signaling to regulate choroid plexus functions

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

Multiciliated cells adapt the mechanochemical Piezo1-Erk1/2-Yap1 cell proliferation axis to fine-tune centriole number.

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

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.

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.

DNAHX: a novel, non-motile dynein heavy chain subfamily, identified by cryo-EM endogenously

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

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis

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

Defining the Polycystin Pharmacophore Through HTS & Computational Biophysics.

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

The membrane topology problem inherent in ciliogenesis is solved by ciliary recruitment of a phospholipid flippase

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.

Wnt/LRP6 signaling imbalance impairs ciliogenesis in human retina epithelial cells

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.

A cytoskeletal scaffold promotes motile cilia assembly by regulating transition-zone integrity

This study identifies KIF27 as a key regulator of motile cilia assembly by maintaining transition-zone integrity, revealing its role in ciliary structure and function across species.

Network-based framework for studying etiology and phenotype diversity in primary ciliopathies

This study uses network propagation to improve the clustering of primary ciliopathies and identify candidate genes, including a novel variant in CEP43.

Temporal Ablation of the Ciliary Protein IFT88 Alters Normal Brainwave Patterns

This study shows that ablating the ciliary protein IFT88 in adult mice disrupts brainwave patterns and cognitive functions like learning and memory.

Reversal of elevated Gli3 in Autosomal Recessive Polycystic Kidney Disease does not alter cystogenesis

This study investigates the role of elevated Gli3 in ARPKD and finds that reducing Gli3 levels does not affect cyst formation in mouse or human models.

Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation

Cyclin O is necessary for multiciliated cells to enter their differentiation cell cycle variant and allows the massive amplification of centrioles, which serve as basal bodies for cilia nucleation.

Cytosolic Carboxypeptidase 5 maintains mammalian ependymal multicilia to ensure proper homeostasis and functions of the brain

This study identifies CCP5's N-domain as critical for ependymal multicilia stability, polarization, and coordination, preventing hydrocephalus in mice.

A cryo-ET study of ciliary rootlet organization

This study uses cryo-ET to reveal the structural organization of ciliary rootlets, showing their filamentous architecture and connections to intracellular membranes.

Convergence of autism proteins at the cilium

The paper shows autism genes converge at cilia, linking them to ciliary dysfunction and co-occurring conditions.

Membrane-bound Guanylyl Cyclase COP5/HKR1 changes ciliary beat pattern and biases cell steering during chemotaxis in Chlamydomonas reinhardtii

Structure of the ciliary tip central pair reveals the unique role of the microtubule-seam binding protein SPEF1

The paper presents a high-resolution structure of the ciliary tip central pair in Tetrahymena thermophila and identifies proteins that stabilize microtubules.

Koolen-de Vries Syndrome causal gene KANSL1 is required for motile ciliogenesis

This study shows that KANSL1 mutations cause ciliary defects in KdVS patients, linking the gene to ciliogenesis and neurodevelopmental features.

The Role of the Co-Chaperone DNAJB11 in Polycystic Kidney Disease: Molecular Mechanisms and Cellular Origin of Cyst Formation

This study investigates DNAJB11's role in atypical ADPKD, showing biallelic loss causes cystic kidney disease and identifying impaired PC1 cleavage as a potential mechanism.