Genetic and Kidney Cyst Diseases

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 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 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 shows that astrocyte cilia regulate Sonic Hedgehog signaling during astrocyte development, affecting proliferation and morphology.

This study uses a kidney-on-chip model to decouple shear stress and pressure effects on tubule dilation in Pkd1-/- cells, revealing distinct mechanisms in different kidney cell types.

This study identifies the collaborative role of IFT and KIF7 in regulating GLI2 transport within cilia to control Hedgehog signaling.

This study investigates the role of DYF-5 in regulating intraflagellar transport (IFT) dynamics in C. elegans cilia, showing it is essential for IFT train turnaround at the ciliary tip.

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.

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 paper measures torsion and twist in axonemes of Chlamydomonas reinhardtii, finding co-rotation between cross-section and bending plane, indicating twist-torsion coupling.

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

The paper identifies cellular defects beyond motility loss in ciliopathies caused by CCDC39/CCDC40 variants, showing proteostasis disruption and cell fate switching.

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

The paper investigates the interactions of ciliary tip proteins and their role in microtubule dynamics, finding that they form structures that slow and processively elongate microtubules.

This study shows that HYLS1 mutations cause centriole structural defects leading to ciliary dysfunction and developmental issues in mice, mirroring human Hydrolethalus Syndrome.

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

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 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.

The paper identifies a programmed cilia deconstruction pathway in cerebellar granule cells during neurogenesis, showing decreased cilia maintenance and centriole capping prevent cilia regrowth and dysregulated signaling.

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

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

This study identifies CDC42 as a key trigger of ciliary ectocytosis in BBSome-deficient cells, leading to cilia shortening and loss of ciliary material.

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.