NIH R01 · 2024
Augmented Notch signaling as a therapeutic approach for Alagille Syndrome
Project Summary Alagille Syndrome (ALGS) is an autosomal dominant disorder characterized by pleiotropic neonatal and adult pathologies resulting from haploinsufficient JAGGED/NOTCH signaling (1). Specifically, ALGS is caused by heterozygous loss-of-function mutations predominantly in the Notch ligand gene, JAGGED1 (JAG1), and less frequently, in NOTCH2 (N2) (2-5). Although this disorder is characterized by defects in multiple organ systems, cardiovascular and hepatic pathologies are the most life-threatening. However, in vivo genetic modeling of this disease has been challenging due to the mild and variable penetrance of Jag1 heterozygous mice (6). Further, there is currently no…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.
← All labs at Sanford Burnham Prebys Medical Discovery Institute