ArticleThe Journal of clinical investigation2020
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Article in The Journal of clinical investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 83 citations in OpenAlex.
- Article
- Microtubule binding protein Togaram1 is required for proper development of mammalian forebrain and neural primary cilia.Developmental biology · 2026Article
- Identification of a component of the tubulin poly-glutamylase complex required for phosphoinositide homeostasis and cilium assembly and maintenance.Nature communications · 2026Article
- Tubulin glutamylation: a key regulator of flagella, cilia, centrosomes, and disease pathways.Journal of biomedical science · 2026Review
- Togaram Ensures Axial Alignment of the Sperm Neck.bioRxiv : the preprint server for biology · 2026Article
- Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.The Journal of clinical investigation · 2026Article
- Primary cilia function as hubs for signal transduction.Cell & bioscience · 2025Review
- An enzymatic cascade enables sensitive and specific proximity labeling proteomics in challenging biological systems.Nature communications · 2025Article
- Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.Journal of cell science · 2025Review
- CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids.Journal of cell science · 2025Article
- Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia.Journal of cell science · 2025Review
- Structure of the ciliary tip central pair reveals the unique role of the microtubule-seam binding protein SPEF1.Current biology : CB · 2025Article
- CCDC66 regulation of cytoskeleton and cilia stability is important for signaling and epithelial organization.PLoS biology · 2025Article
- Left-right cortical interactions drive intracellular pattern formation in the ciliate Tetrahymena.PLoS genetics · 2025Article
- A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.Nature structural & molecular biology · 2025Article
- Unraveling sex differences in Alzheimer's disease and related endophenotypes with brain proteomes.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Genome research · 2025Article
- Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.Reproductive biology and endocrinology : RB&E · 2025Article
- Non-canonical CDK6 activity promotes cilia disassembly by suppressing axoneme polyglutamylation.The Journal of cell biology · 2025Article
- Axonemal microtubule dynamics in the assembly and disassembly of cilia.Biochemical Society transactions · 2025Review
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Authors and funding
30 authors at 10 institutions in 8 countries.
Funding
Abstract
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif-containing 9 (ARMC9) in tandem-affinity purification and yeast 2-hybrid screens to identify a ciliary module whose dysfunction underlies JBTS. In addition to the known JBTS-associated proteins CEP104 and CSPP1, we identified coiled-coil domain containing 66 (CCDC66) and TOG array regulator of axonemal microtubules 1 (TOGARAM1) as ARMC9 interaction partners. We found that TOGARAM1 variants cause JBTS and disrupt TOGARAM1 interaction with ARMC9. Using a combination of protein interaction analyses, characterization of patient-derived fibroblasts, and analysis of CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrated that dysfunction of ARMC9 or TOGARAM1 resulted in short cilia with decreased axonemal acetylation and polyglutamylation, but relatively intact transition zone function. Aberrant serum-induced ciliary resorption and cold-induced depolymerization in ARMC9 and TOGARAM1 patient cell lines suggest a role for this new JBTS-associated protein module in ciliary stability.
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