Genetic and Kidney Cyst Diseases

Loss of ADAMTS9 disrupts ciliogenesis and collagen homeostasis resulting in Nephronophthisis-like polycystic kidneys

This study shows ADAMTS9 deletion in mice causes polycystic kidney disease by disrupting ciliogenesis and collagen homeostasis, leading to small, cystic kidneys and early lethality in males.

CRISPR activation of endogenous PKD1 increases polycystin-1 levels and suppresses cellular features of ADPKD

This study uses CRISPR activation to increase PKD1 expression in ADPKD models, reducing cyst formation and improving cellular features.

Pirfenidone treatment attenuates fibrosis in autosomal dominant polycystic kidney disease

This study shows pirfenidone reduces fibrosis and improves kidney function in ADPKD by targeting myofibroblast activation and ECM production.

Analysis of motor-based transport in primary cilia by dynamic mode decomposition of live-cell imaging data

The paper uses dynamic mode decomposition to analyze live-cell imaging data and investigates KIF13B's role in ciliary transport, finding it does not affect IFT velocity or frequency in a deletion mutant.

SPEF1 mediates assembly of the central pair microtubule complexes in cilia of Tetrahymena.

This study shows that SPEF1 stabilizes central microtubules in Tetrahymena cilia, with defects in its absence affecting ciliary structure and function.

Cross-species molecular mapping of the photoreceptor sensory cilium and periciliary structures identifies conserved and species-specific architectural features

Ultrastructure expansion microscopy of dog, macaque and human retinas shows conserved rod-cone differences in the photoreceptor ciliary core but species-divergent periciliary membranes, calyceal processes and rootlets.

Viscosity-mediated signal amplification enables robust left-right symmetry breaking in the mouse node

This study proposes a viscosity-mediated signal amplification model to explain left-right symmetry breaking in the mouse node by integrating mechanosensing and chemosensing.

INPP5E interactome reveals novel connections to growth factor signaling

This study identifies INPP5E interactors involved in growth factor signaling, revealing its role in regulating ciliary pathways in fibroblasts.

Ciliary ARL13B drives renal cystogenesis via its GEF activity

This study identifies ciliary ARL13B's GEF activity as a driver of Pkd1-dependent renal cystogenesis in mice.

Stereotypical interciliary contacts in a C. elegans sense organ

The paper shows that cilia in C. elegans form stereotyped interciliary contacts independent of physical proximity, suggesting instructive mechanisms guide these interactions.

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

Ciliary ARL13B is essential for body weight regulation in mice

This study shows that ciliary ARL13B in the nervous system is essential for body weight regulation in mice, as its disruption leads to obesity and metabolic dysfunction.

A cross model spatial and single-cell atlas reveals the conserved involvement of osteopontin in polycystic kidney disease

This study constructs a cross-model spatial and single-cell atlas of PKD, identifying Spp1 (osteopontin) as a conserved driver of disease progression through its signaling to Ly6clo monocytes.

K-Ras controls asymmetric cell divisions from the primary cilium

This study shows K-Ras4B sustains ciliation during muscle cell differentiation by localizing to the primary cilium, affecting asymmetric cell divisions and differentiation outcomes.

Myofibroblast- specific autophagy drives cyst growth in autosomal dominant polycystic kidney disease

This study shows that autophagy in myofibroblasts drives cyst growth in ADPKD by promoting paracrine stimulation of epithelial cells, with lactate and HIF1 playing key roles.

3D nanoscale architecture of the respiratory epithelium reveals motile cilia-rootlets-mitochondria axis of communication

This study reveals a communication axis between motile cilia, rootlets, and mitochondria in respiratory epithelium, enhancing ciliary motility and ATP production.

Cilia to basement membrane signalling is a biomechanical driver of autosomal dominant polycystic kidney disease

This study identifies biomechanical changes in the tubular basement membrane as drivers of cyst formation in ADPKD, linking cilia and polycystin-1 function.

Bardet-Biedl Syndrome 1 Mutations Differentially Impact BBSome Integrity and its Function in Ciliary Trafficking

This study examines how specific BBS1 mutations affect BBSome assembly and function in ciliary trafficking, revealing distinct defects linked to different BBS1 variants.

Functions and trafficking mechanisms of RIC-8 in C. elegans and mammalian cilia

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.

Characterization of membrane structures regulating primary ciliogenesis by quantitative isotropic ultrastructure imaging

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

Tubulin Monoglutamylation is Sufficient to Rescue the Ciliary Motility Defects in a Chlamydomonas Polyglutamylation Deficient Mutant

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

In situ Proteomics Unveils Specialized Domains for Extrasynaptic Signaling on Neuronal Cilia

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

Proteomic composition and mutual assembly of the C2a projection in vertebrate motile cilia

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.

Spatial ciliary signaling regulates the dorsal/ventral regionalization of human brain organoids

ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model

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.

Proteomic profiling of primary cilia in the developing brain uncovers newregulators of cortical development

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

Cfap300 regulates the transdifferentiation of Corpuscle of Stannius cells in zebrafish

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

Diurnal regulation of flagellar length and swimming speed in the red-tide raphidophyte Chattonella marina

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.

Microtubule organization and molecular architecture of ciliary basal bodies in multiciliated airway cells

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.

A high-resolution spatial map of cilia-associated proteins in the human fallopian tube

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