A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
Samet BayraktarJulian NehrigEkaterina MenisKevser KarliAnnette JanningThaddäus StrukJan HalbritterUlf MichgehlMichael P KrahnChristian E SchuberthHermann PavenstädtRoland Wedlich-SöldnerPublished in: Journal of the American Society of Nephrology : JASN (2021)
Our results suggest that CaAR can be used as a sensitive assay for INF2 function and for robust evaluation of diseased-linked variants of formin. More broadly, these findings indicate that cellular profiling of disease-associated mutations has potential to contribute substantially to sequence-based phenotype predictions.