ArticleeLife2015
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Article in eLife, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 93 citations in OpenAlex.
- Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies.Cytoskeleton (Hoboken, N.J.) · 2026Article
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Molecular treatment options for patients carryingMolecular therapy. Nucleic acids · 2025Article
- PathogeniciScience · 2025Article
- Article
- Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system.Biology open · 2024Article
- Expanding the Phenotypic Spectrum of PathogenicInternational journal of molecular sciences · 2024Article
- Absence of the primary cilia formation gene Talpid3 impairs muscle stem cell function.Communications biology · 2023Article
- Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.Journal of medical genetics · 2023Article
- Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.European journal of human genetics : EJHG · 2023Article
- Article
- A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome.BMC medical genomics · 2023Article
- Hippocampals neurogenesis is impaired in mice with a deletion in the coiled coil domain of Talpid3-implications for Joubert syndrome.Human molecular genetics · 2022Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Review
- FBW7 couples structural integrity with functional output of primary cilia.Communications biology · 2021Article
- Mutation in the Ciliary Protein C2CD3 Reveals Organ-Specific Mechanisms of Hedgehog Signal Transduction in Avian Embryos.Journal of developmental biology · 2021Article
- TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.Frontiers in molecular neuroscience · 2021Article
- Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer.International journal of molecular sciences · 2020Review
- Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.BMC medical genetics · 2020Article
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 4 countries.
Funding
Abstract
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 KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.