Genetic and Kidney Cyst Diseases

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.

Glutamylation imbalance leads to photoreceptor degeneration

This study shows that glutamylation imbalance in photoreceptor cells leads to structural defects and degeneration, highlighting its role in maintaining outer segment architecture.

A synthetic method to assay polycystin ion channel biophysics

The paper introduces a synthetic method to assay polycystin ion channel biophysics and characterizes their functional properties.

Emx2 is an essential regulator of ciliated cell development across embryonic tissues

This study identifies Emx2 as essential for cilia development and renal lineage formation, showing its role in regulating prostaglandin biosynthesis through PGE2.

Spatiotemporal dynamics of primary and motile cilia throughout lung development

This study investigates the spatiotemporal dynamics of primary and motile cilia during lung development, revealing distinct patterns in endothelial, epithelial, and mesenchymal cells.

Depletion of BBSome Subunits Alters Receptor Endocytosis and Promotes EMT via TGF-β Signaling

This study shows that BBS1 and BBS4 deficiencies disrupt receptor endocytosis and alter TGF-β signaling, leading to EMT and affecting autophagy in retinal epithelial cells.

Multi-omics profiling of mouse polycystic kidney disease progression at a single cell resolution

This study uses single-nucleus multi-omics to analyze mouse PKD progression, identifying cell-type-specific gene and epigenetic changes and conserved regulatory pathways between mouse and human.

Circadian clock disruption and growth of kidney cysts in autosomal dominant polycystic kidney disease

This study shows that disrupting the circadian clock in kidney cells accelerates ADPKD progression by altering lipid metabolism.

Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system

The paper investigates the effects of Joubert Syndrome gene dysfunction in zebrafish, finding altered brain cilia, changes in neuron-related gene expression, and abnormal swimming behavior despite normal brain structure.

Astrogliosis And Neuroinflammation Underlie Scoliosis Upon Cilia Dysfunction

This study identifies astrogliosis and neuroinflammation as pathogenic mechanisms underlying scoliosis in zebrafish caused by cilia dysfunction.

Kinesin Autoinhibition Requires Elbow Phosphorylation

This study shows that phosphorylation of the elbow region in kinesin OSM-3 regulates its autoinhibition, with phosphorylation mutants affecting cilia entry and motility.

TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers

The paper identifies TAOK2 as a regulator of primary cilium length in 16p11.2 CNV carriers, showing opposing effects in deletion and duplication cases.

Activation of PIEZO1 Inhibits Kidney Cystogenesis

This study shows that activating PIEZO1 reduces cyst formation in kidney cells and ex vivo models, suggesting it could be a therapeutic target for ADPKD.

The Role of Cilia in the Development, Survival, and Regeneration of Hair Cells

This study shows that cilia disruption via IFT gene mutations increases hair cell apoptosis and reduces regeneration in zebrafish, but not development.

Computational Exploration of Protein Structure Dynamics and RNA structural Consequences of PKD1 Missense Variants: Implications in ADPKD Pathogenesis

This study examines the structural and dynamic effects of PKD1 missense variants on RNA and protein levels using computational methods to understand their role in ADPKD pathogenesis.

In-cell structural insight into the asymmetric assembly of central apparatus in mammalian sperm axoneme

The paper solves the in-cell structure of mouse sperm central apparatus at sub-nanometer resolution and identifies proteins critical for its asymmetric assembly.

An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and Hedgehog signaling

This study shows that a CILK1 variant linked to epilepsy impairs primary cilia and Hedgehog signaling by disrupting KATNIP regulation in mouse cells.

BMP4 regulates asymmetric Pkd2 distribution in mouse nodal immotile cilia and ciliary mechanosensing required for left-right determination

A short sequence targets transmembrane proteins to primary cilia

The paper identifies a short peptide sequence that efficiently targets transmembrane proteins to primary cilia across cell types and develops an image analysis pipeline for automated cilia measurement.

Myocardin-related transcription factor drives epithelial fibrogenesis in polycystic kidney disease

This study identifies MRTF as a key mediator of fibrosis in PKD by showing its activation following PC1/2 loss and its role in epithelial fibrogenesis.

Ccrk-Mak/Ick kinase signaling axis is a ciliary transport regulator essential for retinal photoreceptor maintenance

This study identifies the Ccrk-Mak/Ick kinase signaling axis as an essential regulator of intraflagellar transport in retinal photoreceptors, showing its role in preventing retinal degeneration.

Differential modulation of sensory response dynamics by cilia structure and intraflagellar transport within and across chemosensory neurons

This study investigates how cilia structure and intraflagellar transport (IFT) differentially modulate chemosensory responses in C. elegans neurons.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy gene transcripts

The paper identifies ANKS3/BICC1 as a post-transcriptional regulator of NPHP1 transcripts, linking it to ciliopathy phenotypes through transcript decay and ciliary dysfunction.

Interaction between ciliary component proteins from Chlamydomonas revealed by CRISPR/CAS9, cryo-electron tomography and mass spectrometry

The paper investigates protein interactions in cilia using CRISPR/CAS9, cryo-ET, and mass spectrometry, revealing a complex involving FAP263, FAP78, FAP184, and FAP151, and links it to dynein f phosphorylation.