Genetic and Kidney Cyst Diseases

A filopodia-based dendritic mechanosensory compartment in CSF-contacting neurons

This paper identifies a cilia-independent mechanosensory mechanism in mouse CSF-contacting neurons using filopodia instead of cilia, showing evolutionary divergence from zebrafish.

A stereotyped glial attachment determines the morphology and function of neuronal cilia

The paper identifies a glial attachment mechanism in C. elegans neurons that affects cilia morphology and function.

Molecular architecture of the ciliary base in mammalian multiciliated cells

This study provides a molecular and structural map of the ciliary base in mammalian multiciliated cells using advanced imaging and molecular techniques.

GRAF1-dependent endocytotic processes and the Golgi apparatus contribute to novel intermediate stages of early ciliogenesis

This study identifies GRAF1 as essential for early ciliogenesis by facilitating membrane delivery from plasma membrane to the developing ciliary membrane through endocytotic processes and Golgi apparatus contributions.

Epilepsy-associated potassium channel KCNT1 is required for multiciliated cell development in Xenopus

This study identifies KCNT1's role in multiciliated cell development in Xenopus and links it to pharmacologically tractable Piezo channels.

TXNDC15 modulated quality control at the endoplasmic reticulum shapes ciliogenesis

The paper identifies TXNDC15 as a regulator of ER membrane protein quality control, showing its dual role in modulating MARCHF6 activity and its link to ciliogenesis defects in Meckel-Gruber syndrome.

Motile ciliophagy promotes ciliary recycling under stress

The paper identifies a stress-induced process called motile ciliophagy in Tetrahymena thermophila, where cilia are internalized and degraded to recycle axonemal components for regeneration.

Tubulin glycylation regulates microtubule-protein interactions that are key for ciliary stability and trafficking

This study shows that tubulin glycylation affects ciliary microtubule stability and motor protein interactions, enhancing kinesin-2 activity and protecting microtubules from depolymerization.

Apelin inhibits cyst growth and improves kidney function in mice with polycystic kidney disease

This study shows that apelin reduces cyst growth and improves kidney function in a mouse model of ADPKD by inhibiting cAMP synthesis and downregulating cyst-related genes.

NBCn1 interacts with DYNLL1 and regulates ciliary length and SUFU localization to control Sonic hedgehog signaling

This paper identifies NBCn1 as a ciliary membrane component that regulates ciliary length and Sonic hedgehog signaling through interactions with DYNLL1 and SUFU.

The Joubert syndrome protein CSPP1 is a conserved regulator of vertebrate multiciliogenesis and motile cilia function

This study identifies CSPP1 as a conserved regulator of multiciliogenesis and motile cilia function in vertebrates, showing its role in centriole amplification, basal body migration, and ciliary structure and function.

The extracellular matrix gene mec-9 regulates C. elegans sensory cilia

This study shows that the ECM gene mec-9 affects sensory cilia function and EV shedding in C. elegans through non-autonomous mechanisms.

Ciliary cAMP regulates Shh signal interpretation to drive polarisation of differentiating neurons

This study shows that ciliary cAMP levels regulate Shh signal interpretation during neuron differentiation by balancing Smo and GPR161 to control actin dynamics and polarisation.

Robust ciliary flows protect early Xenopus embryos from pathogens independent of multiciliated cell patterning

The paper investigates how ciliary flows in Xenopus embryos protect against pathogens, showing robustness in pathogen clearance despite variations in MCC distribution.

Foxn3 is part of a transcriptional network that regulates primary cilia in the developing retina

The paper identifies Foxn3 as a transcriptional repressor that limits primary cilia formation in the developing retina by regulating cilia-related genes.

Liver Disease Reveals KIF12 as a Critical Regulator of Mitochondria, Lysosome and Cilia Localization

This study identifies KIF12 as critical for organelle localization in cholangiocytes, showing its dysfunction leads to mitochondrial, lysosomal, and cilia mislocalization in liver disease.

Brahmi Ghrita Exerts Nephroprotective Effects by Restoring Cytoskeletal Integrity and Ion Transport in Drosophila Model of Polycystic Kidney Disease

This paper shows Brahmi Ghrita reduces cyst formation and restores cytoskeletal and ion transport function in Drosophila PKD model by rebalancing Rho1-Gelsolin signaling.

BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD

This study shows BICC1 interacts with PKD1 and PKD2, exacerbating ADPKD severity through RNA metabolism, using animal models, genetic studies, and human cohorts.

Ancient intraflagellar transport machinery controls unique spatial distribution of phototropin in an evolutionary important non-flagellated vegetative stage of terrestrial alga

This study shows that IFT components are retained in a non-flagellated alga and co-localize with phototropin, suggesting an ancestral non-ciliary role for IFT in phototropin signaling.

Vascular transcriptional and metabolic changes precede progressive intra-renal microvascular rarefaction in autosomal dominant polycystic kidney disease

This study identifies early vascular transcriptional and metabolic changes preceding microvascular rarefaction in ADPKD using mouse models and human cohorts.

A pseudoenzyme controls the architecture of the extreme distal tip of motile cilia

The paper identifies Jhc1, a ciliary protein essential for cilia structure and length in Xenopus, and shows its evolutionary origin and functional adaptation.

Lysine Demethylase 4A (KDM4A) Maintains Basal Body Architecture and Protects Against Ciliary Destabilization

This study identifies KDM4A as a critical factor for cilia assembly and maintenance by interacting with Rootletin and maintaining basal body architecture.

In situ structures of the ciliary tip show the multi-step mechanism of axoneme assembly

The paper visualizes axoneme assembly in situ using cryo-electron tomography and identifies conserved microtubule luminal proteins and assembly intermediates.

Compound heterozygous DAW1 variants reveal tissue-specific roles in left-right patterning and congenital heart disease without primary ciliary dyskinesia

The paper identifies DAW1 variants in a patient with heterotaxy and congenital heart disease, showing tissue-specific functional effects without primary ciliary dyskinesia.

TEP-1, a glial thioester protein is required for cilia organization and intraflagellar transport in ensheathed sensory neurons

This study identifies TEP-1 as a glial thioester protein essential for cilia organization and intraflagellar transport in C. elegans, linking it to AMD and EODM pathogenesis through ciliary dysfunction.

The Joubert gene TMEM67 is required for the correct establishment of spinal dorsal identities in human organoids.

This study shows that TMEM67 is essential for proper dorsal spinal cord patterning in human organoids, with loss of TMEM67 disrupting interneuron specification and altering BMP4 signaling.

Active EB1 surges promote tubulin influx into the growing outer segments of the bipartite olfactory cilia in Drosophila

The paper shows that EB1 surges drive tubulin influx into the outer segments of Drosophila olfactory cilia, promoting cilia growth and stability.

Ift43 Controls the Ciliary Levels of Gli2 and Gli3

This study shows that Ift43 regulates Gli2 and Gli3 levels in cilia, affecting Hedgehog signaling and causing developmental defects in mice.

The primary cilium controls programmed cell death via its proteasome-regulating function

The paper shows that primary cilia regulate programmed cell death by controlling the proteasomal degradation of MOAP1 through ciliopathy proteins like RPGRIP1L, TCTN1, and CEP290.

Primary cilia and BBS4 are required for postnatal pituitary development

The paper shows that cilia and BBS4 are essential for postnatal pituitary development through Hedgehog signaling.