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 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
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- Latour, Brooke L
- Van De Weghe, Julie C
- Rusterholz, Tamara D S
- Letteboer, Stef J F
- Gomez, Arianna
- Shaheen, Ranad
- Gesemann, Matthias
- Karamzade, Arezou
- Asadollahi, Mostafa
- Barroso-Gil, Miguel
- Chitre, Manali
- Grout, Megan E
- van Reeuwijk, Jeroen
- van Beersum, Sylvia E C
- Miller, Caitlin V
- Dempsey, Jennifer C
- Morsy, Heba
- Bamshad, Michael J
- Nickerson, Deborah A
- Boldt, Karsten
- Ueffing, Marius
- Keramatipour, Mohammad
- Sayer, John A
- Alkuraya, Fowzan S
- Roepman, Ronald
- Doherty, Dan
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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
