Missense heterozygous variants in the gamma tubulin gene TUBG1 have been linked to 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 cortical development. We show that TUBG1 mutants affect neuronal positioning within the cortical wall, by a disrupting the locomotion of newly born neurons but without affecting neurogenesis. We propose that mutant γ-tubulin affects overall functioning of γ-tubulin complexes, and in particular their role in the regulation of microtubule dynamics. Additionally, we developed a knock-in Tubg1Y92C/+ model and assessed consequences of the mutation on cortical devel...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
SummaryThe development of the mammalian brain is dependent on extensive neuronal migration. Mutation...
Missense heterozygous variants in the gamma tubulin gene TUBG1 have been linked to malformations of ...
Des mutations hétérozygotes faux-sens dans le gène de la tubuline gamma TUBG1, ont été identifiées d...
International audienceDe novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been l...
Over the last years, the critical role of the cytoskeletal network in the proper cortical developmen...
D’une organisation très complexe, le cortex résulte de différents processus coordonnés qui comprenne...
A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is...
The generation, migration, and differentiation of neurons requires the functional integrity of the m...
SummaryThe formation of the mammalian cortex requires the generation, migration, and differentiation...
The formation of the mammalian cortex requires the generation, migration, and differentiation of neu...
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in ne...
The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with...
The formation of the mammalian cortex requires the generation, migration, and differentiation of neu...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
SummaryThe development of the mammalian brain is dependent on extensive neuronal migration. Mutation...
Missense heterozygous variants in the gamma tubulin gene TUBG1 have been linked to malformations of ...
Des mutations hétérozygotes faux-sens dans le gène de la tubuline gamma TUBG1, ont été identifiées d...
International audienceDe novo heterozygous missense variants in the γ-tubulin gene TUBG1 have been l...
Over the last years, the critical role of the cytoskeletal network in the proper cortical developmen...
D’une organisation très complexe, le cortex résulte de différents processus coordonnés qui comprenne...
A large number of genes encoding for tubulin proteins are expressed in the developing brain. Each is...
The generation, migration, and differentiation of neurons requires the functional integrity of the m...
SummaryThe formation of the mammalian cortex requires the generation, migration, and differentiation...
The formation of the mammalian cortex requires the generation, migration, and differentiation of neu...
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical roles in ne...
The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with...
The formation of the mammalian cortex requires the generation, migration, and differentiation of neu...
International audienceMalformations of Cortical Development (MCDs) are a group of severe brain malfo...
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tub...
SummaryThe development of the mammalian brain is dependent on extensive neuronal migration. Mutation...