Martine manuel

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  Loss-of-function variants in CHAMP1(Chromosome Alignment- Maintaining Phosphoprotein) were recently described as cause of a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and dysmorphic facial features. Champ1 protein is conserved across mammals and plays a crucial role during mitosis where it regulates kinetochore-microtubule attachment and therefore proper chromosome alignment. Its role in postmitotic cells remains largely unknown. My current work investigates the role of Champ1 in neurons and glia.