• Publications
  • Influence
Direct interaction of two polarity complexes implicated in epithelial tight junction assembly
Tight junctions help establish polarity in mammalian epithelia by forming a physical barrier that separates apical and basolateral membranes. Two evolutionarily conserved multi-protein complexes,Expand
  • 470
  • 46
  • PDF
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some insights into its pathogenesis; however,Expand
  • 294
  • 20
  • PDF
Ciliary Targeting of Olfactory CNG Channels Requires the CNGB1b Subunit and the Kinesin-2 Motor Protein, KIF17
Nonmotile cilia on olfactory sensory neurons (OSNs) compartmentalize signaling molecules, including odorant receptors and cyclic nucleotide-gated (CNG) channels, allowing for efficient, spatiallyExpand
  • 207
  • 18
  • PDF
Polarity Proteins Control Ciliogenesis via Kinesin Motor Interactions
BACKGROUND Cilia are specialized organelles that play a fundamental role in several mammalian processes including left-right axis determination, sperm motility, and photoreceptor maintenance.Expand
  • 206
  • 18
  • PDF
Tight Junction Protein Par6 Interacts with an Evolutionarily Conserved Region in the Amino Terminus of PALS1/Stardust*
Tight junctions are the structures in mammalian epithelial cells that separate the apical and basolateral membranes and may also be important in the establishment of cell polarity. Two evolutionarilyExpand
  • 110
  • 18
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia and centrosomesExpand
  • 301
  • 15
  • PDF
Ciliary entry of the kinesin-2 motor KIF17 is regulated by importin-β2 and Ran-GTP
The biogenesis, maintenance and function of primary cilia are controlled through intraflagellar transport (IFT) driven by two kinesin-2 family members, the heterotrimeric KIF3A/KIF3B/KAP complex andExpand
  • 189
  • 15
  • PDF
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Chronic kidney disease (CKD) represents a major health burden. Its central feature of renal fibrosis is not well understood. By exome sequencing, we identified mutations in FAN1 as a cause ofExpand
  • 166
  • 14
  • PDF
Phosphorylation-Dependent Binding of 14-3-3 to the Polarity Protein Par3 Regulates Cell Polarity in Mammalian Epithelia
The mammalian homologs of the C. elegans partitioning-defective (Par) proteins have been demonstrated to be necessary for establishment of cell polarity. In mammalian epithelia, the Par3/Par6/aPKCExpand
  • 157
  • 14
  • PDF
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Nephrotic syndrome (NS) is divided into steroid-sensitive (SSNS) and -resistant (SRNS) variants. SRNS causes end-stage kidney disease, which cannot be cured. While the disease mechanisms of NS areExpand
  • 166
  • 13
  • PDF
...
1
2
3
4
5
...