Genetic and Kidney Cyst Diseases

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 distinct roles of Kif6 and Kif9 in mammalian ciliary trafficking and motility, showing Kif6 is a motile cilia-specific IFT motor while Kif9 regulates the central apparatus.

This study shows that a CILK1 variant linked to epilepsy impairs primary cilia and Hedgehog signaling by disrupting KATNIP regulation in mouse cells.

This study shows that hyperosmotic shock causes reversible primary cilia shortening and loss in mouse cells, mediated by excessive microtubule and F-actin formation.

The paper identifies a short peptide sequence that efficiently targets transmembrane proteins to primary cilia across cell types and develops an image analysis pipeline for automated cilia measurement.

The paper investigates ciliary dynamics in differentiating granule cell neurons, finding that cilia are deconstructed intracellularly and do not reform in adult neurons.

This study shows DLG1 regulates ciliary protein trafficking in kidney cells, with loss of DLG1 causing ciliary elongation and cysts, and a specific DLG1 variant linked to kidney disease.

This study identifies MRTF as a key mediator of fibrosis in PKD by showing its activation following PC1/2 loss and its role in epithelial fibrogenesis.

This study shows that MAK is essential for axoneme formation in zebrafish photoreceptors, which is critical for intracellular protein transport and photoreceptor survival.

This study uses immuno-SEM to identify specific proteins on primary cilia of mouse and human pancreatic islets, overcoming limitations of conventional imaging methods.

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 shows TNF-alpha elongates cilia in retinal epithelial cells via MLK signaling, while heat stress reduces ciliated cells independently of TNF-alpha.

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

This study examines primary cilia in mouse visual cortex using electron microscopy, revealing their distribution, structure, and proximity to synapses.

This study shows NEKL-4 regulates ciliary stability and mitochondrial health in C. elegans ciliated neurons through kinesin activation and mitochondrial homeostasis.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The paper assesses the molecular phenotype of SEC61A1 R236C mutation in two patient-derived cellular models, finding reduced autophagy, cAMP synthesis, and increased calcium leakiness, with similar overall effects across cell types.

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

This study identifies XAP5 and XAP5L as antagonistic transcription factors that regulate ciliary gene expression during spermatogenesis, with XAP5 promoting and XAP5L inhibiting ciliary transcription factors at different stages.

This study identifies Poc1 as a basal body protein that stabilizes triplet microtubules and interconnections, enhancing resistance to ciliary forces.

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 identifies BLTP2 as a negative regulator of ciliogenesis, functioning as a lipid transfer protein between ER and tubular endosomes.

This study identifies CEP170 as a protein interacting with dynein-2, showing its role in dynein-2 assembly and cilia function through effects on intraflagellar transport and Hedgehog signaling.

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

This study investigates cilia length regulation in zebrafish by analyzing intraflagellar transport (IFT) speed and particle size, finding that longer cilia have faster IFT and that reducing IFT particle size shortens cilia.

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.