Mayanglambam Dhruba Singh

This study shows that downregulating Pten improves HD symptoms in fly and cell models by reducing aggregates and apoptosis.

The paper tests a 'two-hit' model for neurodevelopmental defects by examining interactions between 16p12.1 homologs and 'second-hit' genes in Drosophila and Xenopus laevis, finding genetic interactions in 63% of tested pairs.

This study identifies NCBP2 as a key modifier gene in the 3q29 deletion, showing it enhances developmental defects through disrupted apoptosis and cell cycle mechanisms in Drosophila and Xenopus models.

The paper identifies genetic interactions within the 16p11.2 deletion that modulate neurodevelopmental phenotypes in Drosophila and links these interactions to human brain networks.