EglN3 hydroxylase stabilizes BIM-EL linking VHL type 2C mutations to pheochromocytoma pathogenesis and chemotherapy resistance [Medical Sciences]
Despite the discovery of the oxygen-sensitive regulation of HIFα by the von Hippel–Lindau (VHL) protein, the mechanisms underlying the complex genotype/phenotype correlations in VHL disease remain unknown. Some germline VHL mutations cause familial pheochromocytoma and encode proteins that preserve their ability to down-regulate HIFα. While type 1, 2A, and 2B...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Shuiȷie Li, Javier Rodriguez, Wenyu Li, Petra Bullova, Stuart M. Fell, Olga Surova, Isabelle Westerlund, Daniȷal Topcic, Maria Bergsland, Adam Stenman, Jonas Muhr, Monica Nister, Johan Holmberg, C. Christofer Juhlin, Catharina Larsson, Alex Tags: PNAS Plus Source Type: research