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Article

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).

eLife - 19 Sept 2015

Stephen Louise A, Tawamie Hasan, Davis Gemma M, Tebbe Lars, Nürnberg Peter, Nürnberg Gudrun, Thiele Holger, Thoenes Michaela, Boltshauser Eugen, Uebe Steffen, Rompel Oliver, Reis André, Ekici Arif B, McTeir Lynn, Fraser Amy M, Hall Emma A, Mill Pleasantine, Daudet Nicolas, Cross Courtney, Wolfrum Uwe, Jamra Rami Abou, Davey Megan G, Bolz Hanno J

Abstract excerpt

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26386247
DOI: 10.7554/eLife.08077
PMCID: PMC4641851

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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