Publication: Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
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Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M. E., van Reeuwijk, J., van Beersum, S. E. C., Miller, C. V., Dempsey, J. C., Morsy, H., Bamshad, M. J., Nickerson, D. A., … Doherty, D. (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8), 4423–4439. https://doi.org/10.1172/jci131656
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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 use the recently identified JBTS-associated protein ARMC9 in tandem-affinity purification and yeast two-hybrid screens to identify a novel ciliary module whose dysfunction underlies JBTS. In addition to known JBTS-associated protein
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Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M. E., van Reeuwijk, J., van Beersum, S. E. C., Miller, C. V., Dempsey, J. C., Morsy, H., Bamshad, M. J., Nickerson, D. A., … Doherty, D. (2020). Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation, 130(8), 4423–4439. https://doi.org/10.1172/jci131656
