Publication: ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability
ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability
Date
Date
Date
Citations
Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, 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., Neuhauss, S. C. F., Boldt, K., Ueffing, M., Alkuraya, F. S., … Doherty, D. (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability (No. 817213; BioRxiv). https://doi.org/10.1101/817213
Abstract
Abstract
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 use the recently identified JBTS-associated protein ARMC9 in tandem-affinity purification and yeast two-hybrid screens to identify a novel ciliary module composed of ARMC9-TOGARAM1-CCDC66-CEP104- CSPP1. TOGARAM1-variants cause JBTS
Metrics
Downloads
Views
Citations
Additional indexing
Creators (Authors)
Series Name
Series Name
Series Name
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Other Identification Number
Other Identification Number
Other Identification Number
Metrics
Downloads
Views
Citations
Citations
Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, 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., Neuhauss, S. C. F., Boldt, K., Ueffing, M., Alkuraya, F. S., … Doherty, D. (2019). ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability (No. 817213; BioRxiv). https://doi.org/10.1101/817213
