Article

Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

2017-05-25

Abstract excerpt

<h4>ABSTRACT</h4> 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 ciliopat...

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Literature Corpus work: 7cec6f8b-8253-59e2-a75c-34e81e99c5f0
DOI: 10.1101/142042

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