Publication: CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids
CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids
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Eschment, M., Mercey, O., Aarts, E. M., Perego, L., Figueiro da Silva, J., Mennel, M., Abidi, A., Generali, M., Rauch, A., Guichard, P., Hamel, V., & Bachmann-Gagescu, R. (2025). CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids. Journal of Cell Science, 138, jcs264092. https://doi.org/10.1242/jcs.264092
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Primary cilia are ubiquitous sensory organelles mediating various signaling modalities essential for development and cell homeostasis. Their dysfunction leads to ciliopathies, human disorders often affecting the central nervous system. CEP290 is a major ciliopathy-associated gene that encodes a centrosomal and ciliary transition zone protein. CEP290 has been implicated in different cellular functions, including cell cycle control, ciliogenesis, and control of ciliary membrane protein content. To investigate CEP290 dysfunction in human
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Eschment, M., Mercey, O., Aarts, E. M., Perego, L., Figueiro da Silva, J., Mennel, M., Abidi, A., Generali, M., Rauch, A., Guichard, P., Hamel, V., & Bachmann-Gagescu, R. (2025). CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids. Journal of Cell Science, 138, jcs264092. https://doi.org/10.1242/jcs.264092
