Abigail O. Smith

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 Rag GTPases suppress renal cystic disease by inhibiting TFEB, independent of mTORC1, and identifies nuclear TFEB as a better biomarker than mTORC1 activation.

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

This study shows that JNK signaling promotes cyst growth in ADPKD by enhancing cell proliferation and that inhibiting JNK reduces cyst severity.