Mohona Gupta

This study classifies ADPKD-causing missense variants in polycystin-1 into two categories based on their effects on cell surface localization or ion channel function and suggests small-molecule therapies.

This study shows that Ift43 regulates Gli2 and Gli3 levels in cilia, affecting Hedgehog signaling and causing developmental defects in mice.

This study shows that Inpp5e is essential for maintaining photoreceptor outer segments, as its loss causes structural defects and cell loss in mice.