TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

De novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been linked to human malformations of cortical development associated with intellectual disability and epilepsy. Here, we investigated through in-utero electroporation and in-vivo studies, how four of these variants affect corti...

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Publicado no:Nat Commun
Main Authors: Ivanova, Ekaterina L., Gilet, Johan G., Sulimenko, Vadym, Duchon, Arnaud, Rudolf, Gabrielle, Runge, Karen, Collins, Stephan C., Asselin, Laure, Broix, Loic, Drouot, Nathalie, Tilly, Peggy, Nusbaum, Patrick, Vincent, Alexandre, Magnant, William, Skory, Valerie, Birling, Marie-Christine, Pavlovic, Guillaume, Godin, Juliette D., Yalcin, Binnaz, Hérault, Yann, Dráber, Pavel, Chelly, Jamel, Hinckelmann, Maria-Victoria
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6513894/
https://ncbi.nlm.nih.gov/pubmed/31086189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-10081-8
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