Genetic and Kidney Cyst Diseases

The paper determines the 3D structure of mouse radial spoke 3 (RS3) using cryo-EM and identifies its role as a metabolic and regulatory hub in ciliary motility.

This study uses ultrastructure expansion microscopy to visualize axonemal dynein in pancreatic islet primary cilia, showing DNAI1 as a key subunit.

The paper identifies CHD genes that disrupt NPC biology and are enriched for ciliary biology, linking cilia dysfunction to ASD and CHD comorbidity.

This study shows Cep104 is essential for neural tube closure in Xenopus by regulating apical constriction and microtubule stability, beyond its known role in cilia and hedgehog signaling.

This study investigates how ADPKD-causing variants in PKD2 affect channel function through structural and electrophysiological analyses.

This study generates a stable MCC line to profile proteome dynamics during differentiation, identifying CDK7 as a critical regulator in Xenopus and human systems.

This study shows that loss of nephrocystin-1 in kidney organoids impairs DNA repair, increases senescence, and leads to fibrosis, revealing a new role for NPHP1 in DNA damage response.

This study identifies how sensory stimuli and ciliary trafficking defects trigger the release of ciliary extracellular vesicles from different ciliary regions in C. elegans.

The paper investigates how left-right cortical interactions drive pattern formation in Tetrahymena by analyzing the role of HPO1 and Bcd1 in oral apparatus positioning.

This study shows that GABA receptor subtype 1 localizes to primary cilia of neurons and initiates ciliary Ca2+ signaling, distinct from its inhibitory role in other neuronal domains.

This study identifies PRPF8 as essential for left-right organiser cilia function and cardiac asymmetry by regulating ARL13B splicing in mice and zebrafish.

This paper identifies Polycystin-1 as an atypical adhesion GPCR that activates a signaling pathway through Wnt ligands and mechanical stimuli, leading to GSK3 inhibition and ciliary removal.

The paper uses whole-cell proteomics to identify novel regulators of ciliogenesis in Xenopus multiciliated cells, revealing 832 upregulated proteins involved in ciliary structures and function.

The paper provides functional evidence supporting a model of PC1/PC2 heteromer ion channel function through structure-guided mutagenesis and electrophysiological analysis.

This study identifies Borg3 as an essential regulator of primary cilia formation by controlling septin dynamics through Cdc42 activation at the ciliary base.

The paper identifies ciliary proteins in human hypothalamic neurons and finds new therapeutic targets for obesity, including LPAR1, which mediates ciliary shortening.

This study identifies SSNA1 as a centriolar protein in the distal lumen that promotes ciliogenesis without microtubule association, challenging previous views of its function.

The paper develops STAMP to study temporal-spatial signaling in quiescence by synchronizing ciliogenesis and G0 transition with microscopy and phospho-proteomics, revealing transient phosphorylations in cellular functions.

This study shows SAS-1 is essential for centriole integrity and ciliary function in C. elegans and interacts with SSNA-1 to maintain these structures.

This study investigates the role of alms1 in zebrafish, showing its impact on immune response and brain ageing through transcriptomic analysis and CRISPR/Cas9 depletion.

The paper identifies the kinocilium as a unique organelle with molecular features of both primary and motile cilia, showing it generates force in the hair bundle.

This study shows that ciliary dysfunction in human cerebellar organoids leads to overactivation of FGF/MAPK signaling, impairing neurogenesis and increasing progenitor proliferation.

This study shows importin α is involved in ciliogenesis and cilia length regulation during kidney development in Xenopus laevis.

This study compares the role of RPGRIP1L in human and mouse neural progenitor fate specification, finding distinct effects on motoneuron identity and SHH signaling.

The paper uses single-molecule imaging in C. elegans to show how IFT subcomplexes reach the ciliary base and assemble into IFT trains.

The paper identifies conserved proximal-distal asymmetries in flagellar axoneme proteins in trypanosomatids and shows their role in controlling flagellum beat frequency.

The paper describes methods to assess neuronal primary cilia electrochemical signaling using electrophysiology and fluorescent sensors to study ion channels and GPCRs.

The paper identifies a unique pericystic endothelium in ADPKD that contributes to microvascular remodelling and impaired perfusion, suggesting vascular targets for early intervention.

This study identifies KIF14 as a non-canonical kinesin-3 motor that regulates intraflagellar transport in primary cilia by interacting with its motor domain and C-terminal CC1 domain.