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Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development

Archive ouverte | Broix, Loïc | CCSD

International audience. Genetic findings reported by our group and others showed that de novo missense variants in the KIF2A gene underlie malformations of brain development called pachygyria and microcephaly. Thoug...

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

Archive ouverte | Broix, Loic | CCSD

International audience. Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense ...

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

Archive ouverte | Ivanova, Ekaterina | CCSD

International audience. 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, ...

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