Open Access. Powered by Scholars. Published by Universities.®
University of Massachusetts Medical School Faculty Publications
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Articles 1 - 1 of 1
Full-Text Articles in Cell Biology
Super-Resolution Microscopy Reveals That Disruption Of Ciliary Transition Zone Architecture Is A Cause Of Joubert Syndrome, Xiaoyu Shi, Galo Garcia Iii, Julie C. Van De Weghe, University Of California, San Francisco, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter
Super-Resolution Microscopy Reveals That Disruption Of Ciliary Transition Zone Architecture Is A Cause Of Joubert Syndrome, Xiaoyu Shi, Galo Garcia Iii, Julie C. Van De Weghe, University Of California, San Francisco, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter
University of Massachusetts Medical School Faculty Publications
Diverse human ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a ciliary domain near its base. The transition zone controls the protein composition of the ciliary membrane, but how it does so is unclear. To better understand the transition zone and its connection to ciliopathies, we defined the arrangement of key proteins in the transition zone using two-color stochastic optical reconstruction microscopy (STORM). This mapping revealed that NPHP and MKS complex components form nested rings comprised of nine-fold doublets. The NPHP complex component RPGRIP1L forms a ...