Genetic and Kidney Cyst Diseases

This study shows that Tau regulates Rho1-mediated cytoskeletal dynamics in Drosophila Malpighian tubules, affecting tubule structure and function, with parallels to mammalian kidney disease.

This study shows that multicilia in the choroid plexus transduce non-canonical Shh signaling to regulate CSF production by repressing Aqp1 and Atp1a2 expression.

This study identifies the mechanochemical Piezo1-Erk1/2-Yap1 pathway in multiciliated cells that regulates centriole amplification through tension-dependent activation of Foxj1.

This study investigates the role of CEP290 in photoreceptor ciliary structure and outer segment formation in mice, finding defects in ciliary necklace and Y-links, and altered distribution of transition zone proteins.

The paper identifies a novel non-motile dynein heavy chain subfamily, DNAHX, using cryo-EM and shows its evolutionary origin and structural features.

This study evaluates prostaglandin receptor agonists and eupatilin for their ability to rescue ciliogenesis defects and reduce cyst size in nephronophthisis models.

This study identifies potent PKD2L1 antagonists through high-throughput electrophysiology and computational analysis, revealing a novel binding site and inhibition mechanism.

This paper identifies a membrane topology problem in ciliogenesis and shows that the phospholipid flippase ALA2 resolves it by flipping phosphatidyl ethanolamine to establish ciliary membrane curvature.

This study shows that both excessive and insufficient Wnt signaling disrupt ciliogenesis in human retinal epithelial cells, highlighting the interplay between Wnt and mTOR signaling.

This study identifies KIF27 as a key regulator of motile cilia assembly by maintaining transition-zone integrity, revealing its role in ciliary structure and function across species.

This study uses network propagation to improve the clustering of primary ciliopathies and identify candidate genes, including a novel variant in CEP43.

This study identifies CCP5's N-domain as critical for ependymal multicilia stability, polarization, and coordination, preventing hydrocephalus in mice.

The paper shows autism genes converge at cilia, linking them to ciliary dysfunction and co-occurring conditions.

This study shows that KANSL1 mutations cause ciliary defects in KdVS patients, linking the gene to ciliogenesis and neurodevelopmental features.

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

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.

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

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

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

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.

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

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

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.

This study identifies substrate preferences and regulatory mechanisms of TTLL glycylases, showing how tubulin glutamylation and polyglycylation influence TTLL10 activity and microtubule modification.

This study shows primary cilia modulate astrocyte diversity and function through Shh signaling and intracellular balance, affecting neuronal development and behavior.

This study shows that loss of Bbs8 in mice causes cystic kidney disease by reducing ciliary alpha-tubulin acetylation through increased HDAC2 activity.

This study investigates the role of FBW7 in kidney function decline in NPHP and ADPKD, finding that FBW7 loss in the medulla causes fibrosis while its accumulation in the cortex links cysts to renal dysfunction.

This study shows that NEK1 haploinsufficiency in human iPSC-derived motoneurons and brain organoids impairs ciliogenesis, linking NEK1 mutations to ALS through reduced primary cilium formation.

This study identifies ERK1/2 phosphorylation as a mediator of FSTL1's role in ciliogenesis and preadipocyte differentiation, showing FSTL1 antagonizes BMP non-canonical signaling.

The paper investigates the localization and function of axonemal microtubule inner proteins and dynein docking complex members in vertebrate motile cilia, revealing structural and functional differences between (9+2) and (9+0) cilia.