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Article

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

Nature cell biology - 1 Oct 2017

Shi Xiaoyu, Garcia Galo, Van De Weghe Julie C, McGorty Ryan, Pazour Gregory J, Doherty Dan, Huang Bo, Reiter Jeremy F

Abstract excerpt

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...

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Identifiers

PMID: 28846093
DOI: 10.1038/ncb3599
PMCID: PMC5695680

Genes

SMO
TCTN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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