Genetic and Kidney Cyst Diseases

Cholangiocytes' Primary Cilia Regulate DNA Damage Response and Repair

This study shows that primary cilia in cholangiocytes regulate DNA damage response and repair, with deciliated cells showing increased DNA damage and reduced survival under genotoxic stress.

The fibrocystin C-terminal domain inhibits Src/STAT3 signal induced cystogenesis of kidney epithelia.

This study shows that the fibrocystin C-terminal domain suppresses Src/STAT3 signaling, preventing cyst formation in kidney epithelial cells by inhibiting secretory phenotype and STAT3-dependent transcription.

Microtubule acetylation by TAT1 is essential for touch sensation in zebrafish but dispensable for embryonic development

This study shows that TAT1 is essential for touch sensation in zebrafish but not for embryonic development or ciliary function.

The molecular landscape of polycystic kidneys is marked by common alterations in purine metabolism

The paper identifies purine metabolism as a common altered pathway in ADPKD cysts and cell models, showing its modulation suppresses cyst formation in vitro.

Physiological Reconstitution of Microtubule Doublets

This study identifies FAP53 as a key factor in B-tubule assembly during microtubule doublet formation and shows its role in ciliogenesis across species.

Coiled-coil-mediated phase separation of Spef1 for non-centrosomal microtubule organization and function

This study shows that Spef1 undergoes liquid-liquid phase separation to facilitate non-centrosomal microtubule assembly by enriching tubulins, with its coiled-coil domain mediating this process.

GPR161 mechanosensitivity at the primary cilium drives neuronal saltatory migration

The paper shows that GPR161 at the primary cilium senses mechanical stimuli to drive cyclic saltatory neuronal migration through cAMP/PKA signaling and NDE1 phosphorylation.

Ccdc66 regulates primary cilium stability, disassembly and signaling important for epithelial organization

This study identifies Ccdc66 as a microtubule-stabilizing factor that regulates primary cilium stability, disassembly, and signaling in mouse epithelial cells.

BBSome-Mediated Clearance of Ubiquitinated IMPG2 Defines a Constitutive Ciliary Retrieval Pathway in Photoreceptors

This study identifies IMPG2m as a BBSome cargo in photoreceptors, revealing a constitutive ciliary retrieval pathway involving ubiquitinated membrane proteins.

Spatiotemporal regulation of ciliary outer dynein arm biogenesis and the role of PIH homologs

This study investigates the spatiotemporal regulation of ODA biogenesis in Trypanosoma brucei, showing that PIH1D1 facilitates co-translational assembly of ODA subunits.

The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells

This paper shows that GLIS2 is essential for the DNA damage response in kidney cells, leading to DNA damage and cystic kidney disease in a mouse model.

The Multifaceted Role of EXOC6A in Ciliogenesis

This study identifies EXOC6A's role in ciliogenesis by showing its interaction with Myo-Va and its involvement in vesicle dynamics and membrane remodeling during ciliogenesis.

Rag GTPases Suppress Renal Cystic Disease by Inhibiting TFEB Independently of mTORC1

This study shows that Rag GTPases suppress renal cystic disease by inhibiting TFEB, independent of mTORC1, and identifies nuclear TFEB as a better biomarker than mTORC1 activation.

Knocking out Arl13b completely abolishes primary ciliogenesis

This study shows that complete ARL13B knockout in cultured cells abolishes ciliogenesis and hedgehog signaling, indicating a more critical role for ARL13B in ciliary function than previously thought.

In vivo genetic labeling of primary cilia in developing astrocytes.

The paper develops and evaluates genetic models to label astrocyte cilia in the developing prefrontal cortex using Aldh1l1-CreERT2 and cilia reporters, showing that tamoxifen dosage affects labeling efficiency.

Big1 is a cell cycle regulator linking cell size to basal body number

The paper investigates how Big1 regulates cell size by controlling basal body number through cell cycle progression in Tetrahymena.

Intraflagellar Transport Selectivity Occurs with the Proximal Portion of the Trypanosome Flagellum

This study reveals how intraflagellar transport (IFT) trains selectively associate with specific microtubules in Trypanosoma brucei flagella using advanced microscopy techniques.

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

Sterols regulate ciliary membrane dynamics and hedgehog signaling in health and disease

This study identifies sterol composition in primary cilia and shows its impact on Hedgehog signaling and membrane dynamics.

Identification of new ciliary signaling pathways in the brain and insights into neurological disorders

The paper identifies new ciliary signaling pathways in the mouse brain using iBioID and links them to neurological disorders.

The Mn-motif protein MAP6d1 assembles ciliary doublet microtubules

This study identifies MAP6d1 as a microtubule-associated protein that assembles ciliary doublet microtubules by recruiting tubulin dimers and promoting luminal protofilament formation.

Physical and functional interaction of Lrrc56 and Odad3 controls deployment of axonemal dyneins in vertebrate multiciliated cells

The paper investigates the role of Lrrc56 in vertebrate multiciliated cells, showing it regulates outer dynein arm deployment through interaction with Odad3, linking LRRC56 mutations to primary ciliary dyskinesia.

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

This study identifies RSG1/CPLANE2 as a causative gene for human ciliopathy and shows its role in ciliary transition zone assembly.

The cryo-EM structure of mouse radial spoke 3 reveals a unique metabolic and regulatory hub in cilia

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.

Ultrastructure expansion microscopy of axonemal dynein in islet primary cilia

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

Ciliary biology intersects autism and congenital heart disease

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

Ciliary and non-ciliary functions of CEP104 in Xenopus

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.

ADPKD variants in the PKD2 pore helix cause structural collapse of the gate and distinct forms of channel dysfunction.

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

Deciphering the dynamic proteome of multiciliated cells

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

Loss of nephronophthisis-associated nephrocystin-1 impairs DNA damage repair in kidney organoids

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.