Article
The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.
Human molecular genetics - 1 Sept 2015
Laclef Christine, Anselme Isabelle, Besse Laurianne, Catala Martin, Palmyre Aurélien, Baas Dominique, Paschaki Marie, Pedraza Maria, Métin Christine, Durand Bénédicte, Schneider-Maunoury Sylvie
Abstract excerpt
Agenesis of the corpus callosum (AgCC) is a frequent brain disorder found in over 80 human congenital syndromes including ciliopathies. Here, we report a severe AgCC in Ftm/Rpgrip1l knockout mouse, which provides a valuable model for Meckel-Grüber syndrome. Rpgrip1l encodes a protein of the ciliary transition zone, which is essential for ciliogenesis in several cell types in mouse including neuroepithelial cells...
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