The Lab of Fluids and Photons

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Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Published in Nature Cell Biology, 2017

Link to publisher's version.

Excerpt of abstract: Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein composition of its membrane. We defined the three-dimensional arrangement of key proteins in the transition zone using two-colour stochastic optical reconstruction microscopy (STORM).