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Marchetto Laboratory

Thinking big, starting small

The Regulatory Thread: Unraveling the Role of AUTS2 in Human Neurodevelopment


AUTS2 is an important regulator of neurodevelopment and alterations in its function have been associated with a range of neurodevelopmental disorders. However, the molecular mechanisms through which AUTS2 regulates gene expression during human brain development remain incompletely understood.

This project aims to unravel the role of AUTS2 in gene regulation during human neurodevelopment. By combining cutting-edge multi-omics approaches with advanced genome-editing technologies, we investigate how AUTS2 influences gene regulatory networks and cellular processes essential for brain development. Using human pluripotent stem cell-based models, including neural differentiation systems and brain organoids, we aim to uncover the molecular and cellular mechanisms underlying AUTS2 function and establish how its disruption may contribute to neurodevelopmental differences.

Publications


Human AUTS2 Regulates Neurodevelopmental Pathways via Dual DNA/RNA Binding


V. A. M. Saia Cereda, A. Sharma, K. Flanagan, S. Elsaouri, S. Steiner, S. Benassi, G. Reis-de-Oliveira, J. T. Whitley, A. Chandrabhatta, A. P. D. Mendes, L. Randolph-Moore, D. Xenitopoulos, M. Jetzer, R. Oefner, C. Benner, R. Santos, G. W. Yeo, M. C. Marchetto

bioRxiv, 2025



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