Cell BiologybioRxiv
Super-Resolution Microscopy Reveals That Disruption Of Ciliary Transition Zone Architecture Is A Cause Of Joubert Syndrome
X. Shi, G. Garcia, J. C. Van De Weghe…·J. F. Reiter
This study uses super-resolution microscopy to show that mutations in RPGRIP1L and TCTN2 disrupt transition zone architecture in Joubert syndrome, affecting ciliary protein localization and signaling.
DOI 10.1038/ncb3599