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B15 - Debbie van den Berg:

The NIPBL-Integrator Axis in Neurodevelopmental Disorders

Mutations in the cohesin loading factor NIPBL and subunits of the Integrator complex cause related neurodevelopmental disorders in humans. Our previous work has shown that Nipbl interacts with the neural transcription factor Zfp609 and the Integrator complex to regulate cortical neuron migration in mouse embryos. Here, we propose to characterize transcriptional mechanisms and neuro-developmental pathways affected by heterozygous NIPBL and Integrator loss of function mutations in human neural progenitors and cerebral organoid cultures.

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