Genetic and Kidney Cyst Diseases

This study uses CRISPR/Cas9 to disable dynein-2 autoinhibition in C. elegans, revealing IFT-A's roles in retrograde IFT train assembly and motility.

This study identifies MiniBAR as a dual Rac and Rab effector essential for ciliogenesis, showing its role in coordinating actin dynamics and membrane trafficking.

This study investigates the role of cytoplasmic microtubule dynamics during ciliogenesis in Chlamydomonas reinhardtii using chemical and mechanical perturbations, finding that CytoMT depolymerization is a consequence, not a requirement, for ciliogenesis.

The paper uses cryo-EM and integrative modeling to localize DRC subunits in the N-DRC of Tetrahymena thermophila and identifies interacting coiled-coil proteins.

This study shows the tectonic complex physically impedes membrane protein diffusion through the transition zone to ensure proper sorting, leading to photoreceptor degeneration when disrupted.

The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.

The paper identifies concurrent loss of ciliary genes WDR93 and CFAP46 in multiple bird species and discusses implications for host-pathogen interactions and pathogen surveillance.

This study shows that AK7 deficiency in Xenopus leads to ciliary defects, reduced centriole numbers, and impaired mucociliary flow, linking AK7 to primary ciliary dyskinesia.

This study identifies FKH-8 as a master regulator of the primary ciliome in C. elegans, showing its role in gene expression, cilium morphology, and sensory behaviors.

The paper shows that leftward transfer of PKD1L1 polycystin channels initiates left-dominant calcium signaling in mouse embryos, linking nodal flow to laterality.

The paper investigates the role of fluid mechanics in left-right symmetry breaking during zebrafish embryo development and finds that mechanosensing, not fluid content, drives this process.

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

This study shows that ARL13B in cilia inhibits kidney cyst formation in mice, and this function is independent of its role as a GEF for ARL3.

This study shows that inactivating Nphp2 in renal epithelial cells causes nephronophthisis-like phenotypes in mice, including cysts and fibrosis, and that cilia play a role in this process.

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

The paper investigates how physiological conditions like feeding, obesity, and circadian rhythm affect ciliary GPCR localization and cilia dynamics in the brain using MCHR1 and NPY2R as models.

The paper identifies a mutation in RNU4ATAC causing ciliary defects in patients with TALS/RFMN/LWS and Joubert syndrome, linking minor splicing defects to ciliary dysfunction.

The paper shows that immotile cilia in mouse node cells detect mechanical forces from leftward fluid flow, leading to asymmetric molecular responses that break left-right symmetry.

This study uses cryo-electron tomography and AlphaFold2 to model the structure of anterograde intraflagellar transport trains and elucidate their polymerization mechanism.

CiliaMiner is a manually curated database of ciliopathy genes and disorders, classifying 55 diseases into primary, secondary, and atypical ciliopathies with clinical features and orthologs across species.

This study identifies enhancer and super-enhancer changes in PKD, showing their role in gene dysregulation and potential as therapeutic targets.

The paper defines an amino acid-resolution interactome of motile cilia using XL/MS in Tetrahymena thermophila, revealing structural and functional insights into ciliary machines and ciliopathy proteins.

The paper evaluates Hedgehog signaling in five cell lines, finding that hTERT RPE-1 and NIH/3T3 cells respond appropriately, while ARPE-19 and HEK293T do not.

This study identifies WDR47/NMTN-1 as a key regulator of ciliogenesis in C. elegans AWB neurons, showing its role in intraflagellar transport and ciliary function.

This study shows that IDO1 inhibition reduces ADPKD severity by altering the cystic immune microenvironment.

This study uses single-cell multiomic analysis to define cellular complexity in ADPKD, identifying novel transcriptomic and epigenomic features in cystic kidney cells.

This study shows mitochondrial dysfunction in astrocytes disrupts primary ciliary homeostasis, linking mitochondrial stress to ciliary signaling and neurodegenerative disease mechanisms.

This paper identifies beta-arrestins as key regulators of ciliary mechanotransduction in endothelial cells, showing their role in shear stress response and vascular development.

This study shows that GJA1 depletion disrupts ciliary structure by impairing Rab11 trafficking to the ciliary base, affecting proteins like BBS4 and CP110.

This study identifies cis-inhibition of PKD1 and PKD2 mRNAs via miR-17 in ADPKD and shows that disrupting this mechanism reduces cyst growth in multiple models.