Maria del Mar Muñiz Moreno

This study shows that Dyrk1a regulates interneuron migration via actomyosin dynamics, leading to cortical GABAergic system defects and phenotypes seen in DYRK1A-haploinsufficiency syndrome.

The paper introduces a new mouse model, Ts66Yah, for Down syndrome that replicates DS cognitive features and reveals genetic interactions between triplicated regions homologous to Hsa21 and unrelated regions.

The paper shows that ELA-associated increased chromatin accessibility and expression of APOE4 in astrocytes contribute to higher AD risk in APOE4/4 carriers.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

The paper identifies six biological cascades involving key genes that alter behaviour and cognition in Down syndrome mouse models.