Publication: Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors
Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors
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Ojeda Naharros, I., Gesemann, M., Mateos, J. M., Barmettler, G., Forbes, A., Ziegler, U., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics, 13(12), e1007150. https://doi.org/10.1371/journal.pgen.1007150
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Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors. Concentration of signal detection proteins such as opsins in the ciliary membrane is achieved by RabGTPase-regulated polarized vesicle trafficking and by a selective barrier at the ciliary base, the transition zone (TZ). Dysfunction of the TZ protein CC2D2A causes Joubert/Meckel syndromes in humans and loss of ciliary protein localization in animal m
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Ojeda Naharros, I., Gesemann, M., Mateos, J. M., Barmettler, G., Forbes, A., Ziegler, U., Neuhauss, S. C. F., & Bachmann-Gagescu, R. (2017). Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics, 13(12), e1007150. https://doi.org/10.1371/journal.pgen.1007150